Archive for the ‘Genetic Testing’ Category

If you have a rare disease, you may be the only person in Australia with that condition.

You may not know, however, that being diagnosed with a rare disease means you are part of a community of up to two million Australians with one of these conditions. And more than 300 million people globally.

Read more: When you're sick, the support you'll get may depend on the 'worth' of your disease

Today, health minister Greg Hunt announced Australia will have its first National Strategic Action Plan for rare diseases.

This action plan will harness the power of rare disease advocates, patients and families, clinicians, researchers, peak bodies, industry and government to improve care for people with rare diseases.

A rare disease is one that is very uncommon. The most widely accepted definition stipulates a rare disease affects fewer than five in 10,000 people.

Rare diseases are serious, complex, usually chronic, often life-limiting and most have no cure.

We know of about 7,000 different rare diseases, most with a genetic origin. Many begin in childhood.

Rare diseases are often progressive they get worse over time and can be associated with physical or intellectual disability.

Examples of rare diseases are uncommon childhood cancers such as hepatoblastoma (a cancer of the liver), and other better-known conditions like cystic fibrosis and phenylketonuria (a birth defect that causes an amino acid called phenylalanine to build up in the body, and untreated can lead to intellectual disability, seizures and behavioural problems). Both are symptomatic from birth. Huntingtons disease is another, but only shows symptoms in adulthood, even though its inherited.

Read more: Explainer: what is cystic fibrosis and how is it treated?

For a person living with a rare disease, and the people around them, the journey to obtaining a diagnosis and receiving treatment can be difficult, complex, worrying, confusing and isolating.

Rare diseases are difficult to diagnose because individually they occur so infrequently, and symptoms can be very complex. My research and another Australian study show it can take years to get the final correct diagnosis. Most health professionals have never diagnosed or cared for a person with osteogenesis imperfecta, Fabry disease or any other of the 7,000 rare diseases.

Added to this, the onset of symptoms for a rare disease can occur anywhere between birth and adulthood, and diagnostic tests are lacking or difficult to access.

But diagnosis is only part of the puzzle. People with rare diseases typically need complex care from large teams of health professionals because with many rare diseases, several body systems are affected. Also, given the often-progressive nature of the condition, care needs can change sometimes dramatically over time.

Important questions also arise around life expectancy and what the risks would be if the person with a rare disease was to start a family. Would their children inherit the disease? Genetic counsellors can help with these sorts of questions.

Read more: No matter how you fund it, medical research is a good investment

Further, care is costly to families and to the health system. The cost of providing hospital care to just one child with a rare lung disorder who eventually needed a lung transplant amounted to almost A$1 million before the childs ninth birthday.

The market for drugs for rare diseases, often called orphan drugs, is small. Although governments incentivise the pharmaceutical industry to develop orphan drugs, there are no effective drug treatments for most rare diseases.

In recognition that rare cancers and rare diseases traditionally lose out to more common diseases in terms of research, additional targeted funding has recently been allocated to boost research in Australia. In 2019 the NHMRC and the Medical Research Future Fund pledged A$15 million over five years for rare cancers, rare diseases and unmet need.

While a positive step, we are still lagging behind other countries. The United States, for example, spent US$3.5 billion (A$5.3 billion) on rare disease research in 2011.

The action plan recognises people with a rare disease and their right to equitable access to health and support services, timely and accurate diagnosis and the best available treatments. It aims to increase rare disease awareness and education, enhance care and support, and drive research and data collection.

Its roll out should lead to better outcomes for people with rare diseases and less worry and frustration for families. For example, access to care coordinators or care navigators could help guide people and families through our often-fragmented health, disability and social care systems.

Read more: Personalised medicine has obvious benefits but has anyone thought about the issues?

Recent advances in personalised medicine, where a persons specific genomic make-up could be used to tailor specific medicines for that persons particular disease, holds much promise for people with rare diseases in the future.

Genetic testing for critically ill babies and children is already resulting in faster diagnosis and treatment of rare diseases.

The action plan aims to build on and support the sustainability of these important developments.

If you or a family member has a rare disease, and youd like more information, the Rare Voices Australia website is a good place to start.

Nicole Millis, CEO of Rare Voices Australia, co-authored this article.

The rest is here:
What is a rare disease? It's not as simple as it sounds - The Conversation AU

(KSDK) This holiday season was a hot one for at-home genome testing.

Providers like 23andMe and Ancestry.com promoted their heritage and health testing services as a gift for families who want to learn about their genetic makeup.

It might look like the gift that keeps on giving, with new relatives and health findings popping up all the time, but warn that customers may be giving away something theyll never get back.

The history of your DNA doesnt end when you send it in. It might just be the start of the journey your data can take from testing provider to healthcare companies or the police.

While direct-to-consumer genetic testing providers generally have privacy policies to tell customers how their data will be stored and shared, genetic code is sensitive information on a whole new level.

It can connect you to your relatives, predict your risk of disease and even help identify suspects in criminal investigations all over your family tree.

Read more:http://bit.ly/39Z45wZ

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Your DNA test could end up in the hands of healthcare companies or police - WREX-TV

Companies such as 23andMe have proliferated over the past decade, feeding peoples hunger to know who and where they come from, and what diseases their genes might predispose them to. Over that time, it has gradually become clear that the main source of revenue for at least some of these companies comes from selling the data on to third parties.

DTC companies are far from the only ones collecting sensitive data about you. National health systems, health insurers and, increasingly, social media providers are too. Its already being used in research designed to improve our health and wellbeing, and there is a legitimate question to be asked about compensation. 23andMe, for example, asks its customers to waive all claims to a share of the profits arising from such research. But given those profits could be substantial asevidencedby the interest of big pharma shouldnt the company be paying us for our data, rather than charging us to be tested?

These are the privacy concerns that may be behind layoffs, not only at 23andMe, but also atother DTC companies, and that we need to resolve urgently to avoid the pitfalls of genetic testing while realising its undoubted promise.

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Read more:
DNA testing companies are making money off your genetic data. Should they be paying you? - Genetic Literacy Project

For Immediate Release: February 20, 2020 Statement From:

Statement Author

Leadership Role

Director - CDRH Offices: Office of the Center Director

Leadership Role

Director - Center for Drug Evaluation and Research

Pharmacogenetic testing is a type of genetic test that in some instances can predict how a person will respond to specific medications. Thus, this type of testing offers promise for informing the selection or dosing of some medications for certain individuals. When there is sufficient scientific evidence demonstrating a relationship between how a persons genes may impact their metabolism of a drug or how they may respond to the drug, this information can be useful for health care providers. However, for many medications, there is not sufficient scientific evidence to support using pharmacogenetic test results to inform prescribing decisions.

In a 2018 safety communication, we warned the public about the FDAs concerns with firms offering genetic tests making claims about how to use the genetic test results to manage medication treatment that are not supported by recommendations in the FDA-approved drug labeling or other scientific evidence. Clinicians order tests to help them and their patients make better informed decisions. Such decisions, however, should be based on solid and reliable science. Decisions based on inaccurate information can result in patient harm because patients may not receive the most appropriate medication, may receive a medication that could be harmful or may receive a prescription for an inappropriate dose. All of these scenarios can create unnecessary delays and prevent patients from receiving the most timely and appropriate treatment. Patients and clinicians deserve better. Unfortunately, in the time since our safety communication was issued, some manufacturers of pharmacogenetic tests with claims not adequately supported by sound science have continued marketing their tests, including some for medications to treat seizures, mental illness and pain, including opioids. The FDA remains concerned with the safe use of these medications based on pharmacogenetic test reports that are not supported by sound science.

Many pharmacogenetic tests are being offered as laboratory developed tests (LDTs). For many years, FDA has, in an exercise of enforcement discretion, generally not enforced applicable regulatory requirements for LDTs, such as premarket review. The FDA developed its existing approach to LDT enforcement decades ago, when the field of LDTs was much different, and often relied on simpler technologies in local settings. While the landscape of LDTs has changed, the agencys oversight framework has remained the same. The FDA is committed to continuing to work with Congress on a broader legislative solution to the oversight of in vitro clinical tests generally (including LDTs), which would modernize our regulation of these tests. In the meantime, the FDA should not and cannot stand idly by when safety issues arise. Consistent with our mission to protect and promote public health, we believe it is important to take steps now to help ensure that claims being made for pharmacogenetic tests offered today are grounded in sound science to avoid inappropriate management of patients medicationsand to do so through approaches that both protect patients and advance the development of analytically and clinically validated pharmacogenetic tests. Indeed, genetic testing can enhance patient management by improving the selection of medications or the dosage of a medication, tailoring the therapy to the patientbut only when it is based on sound science.

Thats why today we are introducing a collaboration between the FDAs Center for Devices and Radiological Health and Center for Drug Evaluation and Research intended to provide the agencys view of the state of the current science in pharmacogenetics. Our new web-based resource includes a table that describes some of the gene-drug interactions for which we believe there is sufficient scientific evidence to support the described associations between certain genetic variants, or genetic variant-inferred phenotypes, and altered drug metabolism, and in certain cases, differential therapeutic effects, including differences in risks of adverse events.

The table posted today includes certain established gene-drug interactions that appear in FDA-approved drug labeling. Recognizing, however, that not all supported gene-drug interactions may be found in current FDA labeling, the table also includes some additional gene-drug interactions that are consistent with the current FDA labeling and for which there is sufficient scientific evidence based on published literature. This literature-based scientific evidence is often used in support of the recommendations found in professional guidelines used by clinicians.

The table is not complete, but we felt it is important to provide clinicians, patients and test developers with information now while we continue to review the scientific evidence, including the scientific evidence underlying various professional guidelines, such as those of the Clinical Pharmacogenetics Implementation Consortium. We anticipate updating this web-based resource periodically as the evidence evolves. Further, weve opened a docket for public comment and encourage all stakeholders to provide their feedback on specific pharmacogenetic associations that should or should not be included as the agency continues to update this table. Feedback should include supporting rationale and underlying evidence that supports the pharmacogenetic association. These data will be evaluated as we consider updates to the table.

We are also exploring additional approaches for evaluating the evidence underlying gene-drug associations, such as participation in a community-based collaborative approach to the ongoing evaluation of the evolving science, as part of our commitment to continue engaging with health care professional, guideline setting, patient and test developer groups.

We will continue to communicate about the promise and potential of pharmacogenetic testing, and about when we have concerns regarding claims that are not supported by sufficient scientific evidence. We are committed to engaging with stakeholders as we work to protect patients while fostering the development of new and innovative diagnostics.

The FDA, an agency within the U.S. Department of Health and Human Services, protects the public health by assuring the safety, effectiveness, and security of human and veterinary drugs, vaccines and other biological products for human use, and medical devices. The agency also is responsible for the safety and security of our nations food supply, cosmetics, dietary supplements, products that give off electronic radiation, and for regulating tobacco products.

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FDA Announces Collaborative Review of Scientific Evidence to Support Associations Between Genetic Information and Specific Medications - FDA.gov

What happened

Shares of Invitae (NYSE:NVTA) fell as much as 15.5% today after the company reported fourth-quarter and full-year 2019 operating results. The genetic testing company delivered impressive growth in 2019 compared to the prior year, including year-over-year increases of 47% in revenue and 59% in test volumes.

Despite the solid results, Wall Street analysts were expecting $68.1 million in fourth-quarter 2019 revenue. Invitae reported "only" $66.3 million. While the difference was insignificant in the grand scheme of things, it doesn't take much to derail a volatile growth stock.

As of 1:49 p.m. EST, shares had settled to a 11.2% loss.

Image source: Getty Images.

On the one hand, the harsh reaction to the miss on fourth-quarter revenue is certainly an overreaction. Invitae performed well in 2019 and made important strides to expand its business. It launched new tests, formed new partnerships, and joined major health insurance networks.

On the other hand, the genetic testing company reported an operating loss of $244 million in 2019. Investors have accepted steep losses as the price of owning a high-growth company, but the losses are unsustainable.

Metric

2019

2018

Change

Test volume

482,000

303,000

59%

Revenue

$216.7 million

$147.7 million

47%

Gross profit

$98.7 million

$67.6 million

46%

Operating income

($244.1 million)

($122.5 million)

N/A

Cash flow from operating activities

($145.0 million)

($92.2 million)

N/A

Data source: Company press release.

Investors can only hope that a high rate of growth eventually translates into operating profits. For 2020, Invitae expects to achieve more than $330 million in revenue and process at least 725,000 tests, representing year-over-year increases of over 50% for each metric. That should help to create a path to profitability, assuming operating expenses can be held in check. But for the foreseeable future, investors should expect the stock to remain volatile.

Read the rest here:
Here's Why Invitae Stock Is Tumbling Today - Motley Fool

VALDOSTA, Ga. On an October morning in 2018, Eleanor Holmes and her husband left home to run an errand and found two men inside their front gate. They introduced themselves as detectives from Orlando, Florida, and said they needed the couples help.

Standing in the driveway, the casually dressed detectives said they were trying to identify someone whod been found dead many years earlier, the Holmeses recalled. They were looking for the persons relatives, and were using DNA and genealogical records to stitch together a family tree that they hoped would lead them to a name. Friendly and businesslike, they said theyd already got DNA samples from Eleanor Holmes sister and an aunt. And now they wanted hers.

Holmes already knew about the detectives visit to her sister. It worried her that someone in her family had died without anyone knowing about it. She had relatives in Orlando, including a niece whom she hadnt heard from in more than a decade. So she agreed.

I just did it because that was the only thing on my mind, my niece. That was it, bottom line, Holmes said in a recent interview.

The detectives, still standing in the driveway, swabbed Holmes cheek and put the sample in a container. They thanked her, gave her a business card and drove away.

She thought nothing of it until a few days later, when she got a frantic phone call from the girlfriend of one of her sons, Benjamin Holmes Jr. Orlando police had just arrested him for allegedly fatally shooting a college student, Christine Franke, in her Florida home in 2001. Theyd used DNA and genealogical records to tie him to the crime.

In that panicked moment, it dawned on Holmes that the detectives hadnt told her the truth. Theyd used her DNA to help build a case against her son.

When they arrested him, I knew they were lying, Holmes said. They lied to us.

Police have said that the arrest of Benjamin Holmes Jr., 39, shows their commitment to do everything we can to solve crimes. Frankes family says the arrest has given them long-needed answers about her death and allowed them to stop wondering if the killer was still out there, free to prey on others.

Benjamin Holmes Jr. and his parents, though, say he is innocent. He has pleaded not guilty, and his trial, scheduled for June, may be the first to explore how police conduct investigations using genetic genealogy, a largely unregulated technology that has exploded in popularity in recent years.

Holmes and her husband, who are both in their mid-70s, arent the only ones in their family who feel misled by police. In the months before taking her DNA, Orlando detectives visited more than a dozen of her relatives in Florida and Georgia. Several said they were told a similar story before agreeing to provide DNA samples.

It was just deception, not only to me but all my other family members, because they know what they were looking for when they took the DNA, Holmes said. They weren't looking for someone in our family that had been killed, or that was dead. They were looking totally to find out whether or not our DNA coincided with Benjamin's. That's what they were looking for.

For 17 years, Orlando police detectives had tried to figure out who killed Franke. Although the case had gone cold, each did what they could with the available technology and manpower. But every lead, every potential clue found at the scene, left them, and Frankes family, without answers.

I thought theyd never catch him, Frankes mother, Tina, 70, said.

Franke, 25, was one of four siblings raised in Vero Beach, 100 miles outside Orlando. An aspiring elementary school teacher, she was studying at the University of Central Florida while working as a server at a restaurant near the Universal Orlando theme parks. She lived with her girlfriend about a half hour away, on the north side of town.

Early in the morning of Oct. 21, 2001, after working a double shift, Franke returned home to an empty apartment; her girlfriend was out of town. Later that day, after the girlfriend was unable to reach her, she called a neighbor, who found Franke dead just inside the apartment door.

Shed been shot once in the head, and her wallet, containing no cash, had been discarded on the floor, according to court documents. Her clothing had been partially removed, and investigators found semen on her body. Police surmised that she had resisted the killers attempts to rob and rape her.

Police took a sample of the semen and submitted it to the state crime lab, which developed a profile and entered it into a national criminal database. There was no match. They took DNA from dozens of people potential suspects, as well as friends, relatives, co-workers, neighbors, acquaintances and witnesses and compared their profiles to the DNA found at the scene. Again, no hits.

They tried other forensic methods lifting fingerprints from the apartment, entering a shell casing into a national firearms database and found nothing. Years passed with no progress.

That changed in April 2018, when California authorities announced that theyd used a groundbreaking technique to identify a man they said was the Golden State Killer, a serial rapist and murderer whod terrorized the state in the 1970s and the 1980s. Law enforcement officials said theyd solved the case by entering crime-scene DNA into an online database called GEDmatch, where people shared profiles purchased from direct-to-consumer genetic testing companies such as Ancestry.com and 23andMe.

Orlando Detective Michael Fields, who inherited the Franke case from a retired colleague in 2012, decided to try the same tactic. He reached out to a Virginia company, Parabon NanoLabs, which had just started helping law enforcement identify unknown suspects by using genealogy websites to find their relatives and build family trees. The researchers, led by Parabons top genealogist, CeCe Moore, found two cousins of the suspected killer in GEDmatch and traced their common ancestors to a husband and wife who lived in Valdosta in the first half of the 1900s.

The Valdosta couple had an extremely large family, producing a sprawling family tree. Navigating that thicket left Fields and the researchers at dead ends, unable to go further without getting DNA from more people in the family.

Asking innocent people to voluntarily provide their DNA known as target testing is an unseen but essential, and thorny, component of investigative genetic genealogy. While police are seeking straightforward information about family ties, the process can also reveal secrets, including out-of-wedlock births and adoptions, ethics and privacy experts say. Subjects may not fully understand how their DNA profiles will be used.

While American courts have ruled that police are allowed to mislead people to obtain evidence, theres a debate within law enforcement over how honest police should be in seeking DNA from people who arent suspected of a crime.

Investigator Matt Denlinger works cold cases for the Cedar Rapids Police Department in Iowa. He used target testing to help solve the 1979 murder of a teenage girl. He says the truth, without including many details, usually works.

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You just go up and tell them what youre doing. No sleight of hand, he said. Most people are happy to help. They know theyre not involved. People get excited to help solve a mystery, if you phrase it that way.

Jennifer Spears, a cold case investigator with the Seminole County Sheriffs Office in Florida, said she rarely gets any hesitation from the people she approaches. I tell them their DNA is only being used in this case to help us determine where we need to be on the family tree, she said. Are we on the right branch, or are we way off?

The Department of Justice requires informed consent from nonsuspects before collecting DNA for a genetic genealogy investigation, according to an interim policy published last year. If a law enforcement agency decides that getting such consent would compromise the integrity of the investigation, then investigators may obtain the sample covertly, but must first get approval from a judge.

The policy covers cases involving federal authorities, so it does not apply to the Franke case, which was handled by local police. It also leaves unaddressed the use of a false story to persuade someone to provide a DNA sample. The lack of uniform rules opens the process to ethical risks, said Christi Guerrini, an assistant professor in the Center for Medical Ethics and Health Policy at the Baylor College of Medicine.

Unless circumstances compel us otherwise, we generally want people to be informed as to why theyre being asked to provide DNA to help with the investigation, she said, adding that she didnt know enough about Orlando polices actions to evaluate their handling of the Franke case.

The Orlando Police Department and the State Attorneys Office prosecuting the Franke case declined to comment.

Fields also declined to talk about his work on the case, but in interviews last year, he shared his general approach to asking people for their DNA. He said he has done it about 40 times, either as the lead investigator on a case, or assisting other police departments.

Fields said his approach depended on the person: how closely related they appeared to be to the unidentified suspect, whether theyd worked in law enforcement, whether theyd done any research on their own family trees.

He said he typically told his subjects the truth, without getting too specific: that there was a murderer or rapist in their family and he needed their DNA to figure out who it was. Other times, Fields said, he used a ruse. He declined to say what it was, or why he used it. But its effective, he said.

Holmes was raised in Valdosta, a small city near the Georgia-Florida border, but met her husband at a restaurant in Orlando, more than 200 miles away. They married and raised six children there, including Benjamin Holmes Jr., who they said was athletic, outgoing, popular and a junior deacon at his church. He didnt give his parents too much trouble beyond staying out late, they said.

After their children were grown, Holmes, a former nurses aide, moved back to Valdosta with her husband, a retired chef. They live a quiet life there in a single-story home behind a screen of pine trees and a chain-link gate. The couple are intensely private. The visit from the detectives in October 2018 upended that.

Fields and his partner, Detective Michael Moreschi, arrived without any advance notice. It quickly became clear that they already knew a lot about the Holmes family.

They knew my father, they knew my children, they could name every one of my children, where they lived. Everything that they wanted, they had it right there, Holmes recalled. Except for my DNA.

At that point, Fields and his colleagues had collected more than a dozen voluntary DNA samples that had narrowed the search. They believed the killer was one of Holmes two sons, according to an affidavit Fields would later file in court.

Among those whod already given their DNA was Alvin Davis, who said the detectives showed up at his Valdosta home and told him they were trying to identify a woman whod died in Orlando. They thought she was related to him, and needed his DNA to help figure out who she was.

Davis said he wasnt worried; he liked the police and wanted to help. I got nothing to hide, Davis, 63, recalled telling them. They swabbed his cheek and left.

The detectives told Cynthia Young, who lives in Miami, a similar story when they came to her door for her DNA.

Young, 63, a retired corrections officer, said she agreed because she understood how DNA could help a police investigation.

I didnt have a problem with it, she said. I see the good of using DNA.

Those DNA submissions helped pave a genetic trail that led police to Holmes.

Holmes said she isnt a very trusting person. But the detectives put her at ease. Before submitting to the swab, she said she joked with the detectives that they might find out that she was related to them.

I didn't really think it over, she recalled.

The detectives then asked her husband for his DNA. He declined and walked away.

For me to give my DNA to you, you have to come with some kind of papers from lawyers or something, Benjamin Holmes Sr. recalled. Just going to walk in out of the blue and say, I want to take your DNA, could you give me a sample? No.

Immediately after collecting Holmes DNA, police sent it to the Florida state crime lab, which determined that the suspect was one of her two sons, Reginal Holmes and Benjamin Holmes Jr., who both lived in Orlando, according to the Fields affidavit.

Investigators first focused on Reginal Holmes, following him to work as he installed air conditioning units at a construction site. An undercover officer approached him, got into a conversation with him, and offered him a bottle of Gatorade. Reginal Holmes took it and drove away, with the undercover officers tailing him, according to Fields affidavit. When Reginal Holmes threw the bottle into a dumpster, a detective retrieved it and took it to the state crime lab, which obtained a DNA profile and compared it to the crime scene DNA. There was no match, making Benjamin Holmes Jr. the prime suspect.

He was a Wendys restaurant manager with a record of arrests dating to 2001, mostly low-level drug charges and probation violations, as well as a domestic violence charge, according to Fields affidavit. Officers put him under surveillance. On the second day of following him, officers watched him step outside a friends house with a cigar and a beer, then throw them out. An undercover detective retrieved both, and police sent them to the crime lab, which found a match with the DNA from the crime scene.

Based on that link, and a follow-up sample of DNA Benjamin Holmes Jr. provided under court order, police arrested him on Nov. 2, 2018, charging him with shooting and robbing Franke. They did not offer a motive or a connection between the two.

Benjamin Holmes Jr. denied killing Franke, or ever knowing or meeting her. He has no idea how his DNA ended up at that place, his lawyer, Jerry Girley, said.

Girley said he was exploring ways to prevent the DNA evidence from being used at trial. He noted that the Franke case was among several in which DNA samples at state crime labs were found to have been contaminated. Lab officials have said that the samples have since been reanalyzed under sanitary conditions, providing profiles that can be used in court.

Girley has also discussed the case with the American Civil Liberties Union, which is tracking it as part of a broader plan to challenge the warrantless collection of DNA from property abandoned by potential suspects.

Girley acknowledged that police didnt break any laws when they used a ruse to obtain DNA from Holmes. But, he said, the tactic ought to be restricted.

There should be further evolution of the law to come abreast with the evolution of technology, Girley said.

After hearing about Benjamin Holmes Jr.s arrest, the relatives who gave their DNA to supposedly help identify a dead person realized the truth.

Young figured it out after seeing news coverage, which focused on the use of genetic genealogy.

It bothered me because they came to my house and they lied, she said.

Young, who knows Holmes but not her son, said that shes not sure she would have given her DNA if shed known how it would be used.

Had they been honest, I would have made a decision whether to give them my DNA or not, and if I chose not to, they could have gotten it by other means, Young said. Im OK with them getting it through other means. But to come to me and just lie to get what they want?

Davis said he would have given his DNA if the detectives said they were investigating a murderer in his family. He does not know Benjamin Holmes Jr. but has met Holmes. I just regret that they tricked me to get it, he said.

Holmes and her husband said that hearing what their son was accused of sent them into a long period of grief and anger that left them little time to ponder the detectives story.

I was so hurt, I don't think I could have hurt any more if he was dead, if he had been killed, Holmes said. That's just how much I was hurt inside. My heart hurt. I couldn't sleep at night, I didn't want to see anybody, I didn't want to talk to anybody. I was torn up.

She said that if she knew her DNA was going to be used to investigate a potential murderer in her family, she doesnt think she would have given it. I dont want to get involved thats the first thing I would say, she said.

On the other side of the case is the murder victims mother, Tina Franke, a retired nurses aide, who remembers her daughter as fearless and exuberant and a natural with children. She spent 17 years wondering if anyone would ever be charged with the murder. She got a tattoo on her right arm of a doodle her daughter once drew; it says Mom Dad I love you.

Fields explained to her the basics of how genetic genealogy was used to close the case, but Tina Franke said she didnt know how DNA was taken from Benjamin Holmes Jr.s relatives, including Holmes. I feel bad for her, she said.

Still, she said she had no problem with the tactic. Im glad for the end result, she said.

She wonders if Benjamin Holmes Jr.s relatives would feel differently if the situation were reversed.

If they can imagine their own daughter being murdered and 17 years have gone by and they still dont know who did it and they have DNA and no one to attach it to, she said, I think theyd want them to do what it took to find out who did it.

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'They lied to us': Mom says police deceived her to get her DNA and charge her son with murder - NBC News

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4. It helps in analysing the major key product segments.

5. Researchers sheds light upon the market dynamics such as drivers, restraints, trends, and opportunities.

6. It offers regional analysis of Global Newborn Genetic Testing Market along with business profiles of several stakeholders.

7. It offers huge data about trending factors that will influence the progress of the Global Newborn Genetic Testing Market.

Finally, the researchers focuses on different ways to discover the strengths, weaknesses, opportunities, and threats (SWOT Analysis) affecting the growth of the global Newborn Genetic Testing Market.

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Newborn Genetic Testing Market Executive Summary And Analysis By Top Players 2020-2026 - Keep Reading

Governor Andrew M. Cuomo today announced a 30-day amendment to the FY 2021 Executive Budget which will include legislation to establish the SUNY Curing Alzheimer's Health Consortium within the State University of New York. The Consortium will work to identify genes that predict an increased risk for developing Alzheimer's and collaborate with public and private research institutions on projects and studies to identify opportunities to develop new therapeutic treatment and cures for Alzheimer's. The goal of the Consortium will be to map the genetics of 1 million people, suffering from or at-risk of developing Alzheimer's Disease, over 5 years. This new wealth of data will support researchers as they work towards developing newtreatments and cures for the disease.

"Alzheimer's Disease affects hundreds of thousands of New Yorkers each year and takes a devastating toll on both patients and caregivers who lack access to sufficient treatment options due to an insufficient body of research"Governor Cuomo said."Genomics have made significant progress in the diagnosis and treatment of diseases ranging from cancer to cardiovascular disease, and could present major breakthroughs in the fight against Alzheimer's Disease. The Curing Alzheimer's Health Consortium will collect genomic data on a statewide scale and support genetic researchers as they work to slow the deadly progress of this disease."

SUNY will issue a request for proposals in partnership with Empire State Development's Life Sciences Initiative for private providers to partner with the SUNY system and other not-for-profit and private hospitals, and non-profit higher education research institutions to map the genomes of individuals suffering from or at risk of Alzheimer's.The ESD Life Science Initiative will provide $20M in existing funding to the Consortium to identify and recruit 200,000 people for genetic testing as part of phase one of the initiative.

Entities awarded the RFP will partner with SUNY's systems, including SUNYUpstate Medical, SUNY Downstate Medical, Renaissance School of Medicine at Stony Brook University,Jacobs School of Medicine and Biomedical Sciences at University at Buffalo, as well asother medical centers and hospitals,to launch an initial phase of their partnership that will map 1 million people suffering from, or at risk of, Alzheimer's over 5 years.Upon completion of the mapping, the resulting database will be made freely available to advance research on Alzheimer's Disease.

Alzheimer's in New York

According to the Department of Health, in 2017 an estimated 390,000 individuals in New York State suffered from Alzheimer's Disease, a figure that is expected to increase to 460,000 by 2025. Despite its prevalence, there remains a concerning lack of research and available treatment options to address Alzheimer's, which contributes to staggering disability and disease burden for patients, their families and society, and billions in economic costs annually to the State

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Governor Cuomo Announces 30-Day Amendment to FY 2021 Executive Budget to Establish SUNY Curing Alzheimer's Health Consortium - ny.gov

Genetic Testing Devices market Research Report 2020 offers a comprehensive analysis of the market growth drivers, trends, opportunities, prospects, drivers and restrictions inside the market. The report emphasizes to meet the requirement of customers by providing complete knowledge of the Genetic Testing Devices Industry. This carefully organised report is formulated by industry experts and professional experts, in terms of demand and supply, cost organization, barriers and challenges, product category, crucial market players, technology, regions, and applications.

The Genetic Testing Devices market study is based on historical information and present market requirements. As well as includes different business approaches preferred by the decision-makers. That enhanced the Genetic Testing Devices industry growth and make a phenomenal stand in the industry. The market will raise with a prominentCAGRby 2020 to 2026.

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Furthermore, it also evaluates the most recent improvements while estimating the growth of theleading playerslike

Myriad GeneticsCepheidLuminexSeegeneBioRad LaboratoriesWaferGen BiosystemsIntegraGenBioMerieuxInterpace DiagnosticsQiagenElitechElitechAbbott LaboratoriesBiocartisPerkinElmerRoche DiagnosticsEKF DiagnosticsQuest Diagnostics

Segmentation by Product Type

Type 1Type 2Type 3

Segmentation by Application/ End uses:

Application 1Application 2Application 3

Regional Analysis for Genetic Testing Devices Market:

North America (the United States, Canada & Rest of the countries)

Europe (Germany, The UK, France, Netherlands, Italy, Spain & the rest of the countries)

Asia-Pacific (China, Japan, Korea, India, & rest of the countries)

Middle East & Africa (South Africa, Israel, UAE & rest of the countries)

South America (Brazil, Colombia, Argentina & the rest of the countries)

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What is the regional structure of the market? Our analysis-

The Genetic Testing Devices Industry report analyses footprint of every product and its significance analyzes examine each geographical segment of the market with import, export, consumption, and production in these regions to provide a complete understanding of the Genetic Testing Devices market

In addition, the Genetic Testing Devices Industry report covers an analysis of different products available in the global market built on production, volume, revenue, and cost and price structure. The Genetic Testing Devices Market report also highlights key strategies that proved to be profitable for the business in-line with the policies involved in business expansion, partnership deals, composition, and new product/service launches.

YEARS CONSIDERED FOR THIS REPORT:

Historical Years:2015-2019

Base Year:2019

Estimated Year:2020

Forecast Period:2020-2026

DEFINITE SEGMENTS OF GLOBAL Genetic Testing Devices INDUSTRY:

The analysis highlights a region-wise as well as a worldwide study of the Genetic Testing Devices market. Proportionately, the regional study of the industry comprisesJapan, South East Asia, India, the USA, Europe, and China.Moreover, the report reviews an in-depth market analysis of distinct manufacturers and suppliers. It explainsindustry chain structure, competitive scenario, and study of Genetic Testing Devices industry costin detail. It evenly analyzes global industry size pursued by forecast period (2020-2026) and environment.

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The analysis covers basic information about the Genetic Testing Devices product likeindustry scope, segmentation, anoverviewof the market. Likewise, it providessupply-demand data, investment feasibleness, and elements that limiting the growth of an industry. Predominantly, it helps product demand, annual revenue and growth prospects of the industry. The foreseen Genetic Testing Devices market regions along with the present onesassist leading vendors, decision-makers, and viewers/readersto plan effective business strategies respectively.

KEY TOPIC COVERED

Growth Opportunities

Market Growth Drivers

Leading Market Players

Market Size and Growth Rate

Market Trend and Technological

Company Market Share

TOC OF Genetic Testing Devices MARKET REPORT INCLUDES:

1 Industry Overview of Genetic Testing Devices

2 Industry Chain Analysis

3 Manufacturing Technology

4 Major Manufacturers Analysis

5 Global Productions, Revenue and Price Analysis of Genetic Testing Devices by Regions, Creators, Types, and Applications

6 Global and Foremost Regions Capacity, Production, Revenue and Growth Rate by 2013-2019

7 Consumption Volumes, Consumption Value, Import, Export and Sale Price Analysis by Regions

8 Gross and Gross Margin Analysis

9 Marketing Traders or Distributor Analysis

10 Global and Chinese Economic Impacts on the Genetic Testing Devices Industry

11 Development Trend Analysis

12 Contact information

13 New Project Investment Feasibility Analysis

14 Conclusion of the Global Genetic Testing Devices Industry 2019 Market Research Report Continued

Finally, the feasibility of new investment projects is assessed, and overall research conclusions are offered.

Key questions answered by the Genetic Testing Devices Report:

What are some of the most favourable, high-growth prospects for the global Genetic Testing Devices market?

Which products segments will raise at a faster pace throughout the forecast period and why?

What are the foremost factors impacting market prospects?

What are the driving factors, restraints, and challenges in this Genetic Testing Devices market?

What are the competitive threats and challenges to themarket?

What are the evolving trends in this Genetic Testing Devices market and reasons behind their emergence?

What are some of the changing customer demands in the Genetic Testing Devices Industry market?

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Global Genetic Testing Devices Market Research Provides an In-Depth Analysis on the Future Growth Prospects and Market Trends Adopted by the...

Guardant Health (GH) is an $8 billion provider of diagnostic tests for early detection of cancer in high-risk populations and recurrence monitoring in cancer survivors.

With sales expected to break above $270 million this year, representing over 30% annual growth, their commercially available tests provide information that helps advanced cancer patients get the right treatment and helps drug companies get new therapies to market faster.

Conquering Cancer with Data

Examining cancer reappearance is widely expected to be a $15 billion market in the United States in the near term, while detecting patients with the risk of cancer is poised to be an $18 billion annual market.

Using specialized blood tests and liquid biopsy (examination of tissue) to detect cancer, Guardant has grown fast after launching the LUNAR DNA test for early detection. Along the spectrum, the companys Guardant360 and GuardantOMNI products have played a significant role in identifying late-stage cancer.

The LUNAR assay is also used for research and for use in prospective clinical trials, including initial studies related to screening and early detection in asymptomatic individuals.

In pursuing what the company calls "precision oncology," Guardant has made a name for itself in matching cancer patients with customized treatments.

Q3 Earnings Inspire Analysts to Raise Estimates

On November 7, Guardant reported a third-quarter 2019 revenue of $60.8 million, an increase of 181% over the prior year period. The company also surprised investors with a quarterly loss of only 14-cents when the Street consensus was looking for a loss of 39-cents, thus delivering a 64% positive surprise.

Here were some of the highlights of the quarter as reported by the company...

**Reported 13,259 tests to clinical customers and 5,280 tests to biopharmaceutical customers in Q3, representing year-over-year increases of 89% and 111%

**Initiated ECLIPSE, a large-scale registrational study designed to support the performance of the companys LUNAR-2 blood test in colorectal cancer screening in average-risk adults

**Submitted Premarket Approval Application package for Guardant360 to the U.S. Food and Drug Administration

**Launched CLIA-version of the LUNAR Assay for use in prospective clinical trials

During the quarter, the Guardant team continued to make significant progress across our business, said Helmy Eltoukhy, PhD, Chief Executive Officer. We are especially excited by the recent initiation of our ECLIPSE study. If successful, we believe this registrational study will pave the way for a blood-based test to address the significant unmet need of physicians and their patients who seek an alternative to the current tools for colorectal cancer screening.

After the 25-cent EPS surprise, Wall Street analysts raised their full-year 2019 consensus by 39-cents from a loss of $1.27 to a loss of 88-cents.

They also boosted next year's outlook from a loss of $1.29 to a loss of $1.13. On the top line, Guardant is expected to grow revenues by 32% to $272 million.

Race to the Future of Preventive Medicine

Genetic diagnostics is an exciting field full of innovative companies providing everything from full genome sequencing to specialized cancer tests.

Not only are people everywhere becoming more curious about their genetic ancestry, they're also getting more proactive about their genetic predisposition for health issues.

Guardant reports its Q4 earnings next week on 2/24, after two of its top peers: Exact Sciences (EXAS), the $13 billion maker of the Cologuard test, and Invitae (NVTA), the young $2.5 billion upstart in medical-grade genetic testing who reports its Q4 today 2/19, after the market close.

On Feb 11, Exact Sciences announced Q4 2019 results with Screening revenues of $229.4 million, reflecting a year-over-year increase of 60%. Cologuard test volume was 477,000, up 63% year over year.

Precision Oncology -- the name of the new business segment after the completed acquisition of Genomic Health Diagnostics (apparently Guardant doesn't have a trademark on that) -- added revenue of $66 million for the period Nov. 8, 2019 through Dec. 31, 2019. Proforma revenue for the new unit was $119 million, an increase of 14% percent from proforma 2018 revenue when Genomic Health was a stand-alone entity, primarily driven by Oncotype DX test volume of 41,000.

Story continues

Average Cologuard recognized revenue per test was $481. Moreover, average Cologuard cost per test of $123 reflected an improvement of $6 per test.

Exact Sciences gross profit (excluding the amortization of acquired intangibles) rose 114.1% to $225.2 million. Further, gross margin expanded 263 basis points (bps) to 76.2%.

The company anticipates revenues of $1.61-$1.65 billion for 2020. The projection includes Screening revenues and Precision Oncology revenues of $1.13-$1.15 billion and $485-$495 million, respectively.

Exact CEO Kevin Conroy made a presentation at the JPM Healthcare Conference in January which was very bullish in terms of their expansion into other leading cancer diagnostics. The next big test area will be for liver cancer for which they are partnered with Mayo Clinic.

Conroy, with a 32-slide presentation deck, also detailed the growth opportunities for Exact in other vital detection markets like pancreatic, esophageal, bladder, ovarian, cervical, stomach, lung, lymphoma, melanoma, kidney, and uterine cancers.

After earnings, Oppenheimer analysts, with the highest Street price target on EXAS of $130, commented on the company's financial guidance and disclosure of further M&A plans with "the first of what we believe could be a series of bolt-on acquisitions to leverage its newly acquired Precision Oncology sales channel. The acquisitions combined with more aggressive spending on the companys liquid biopsy franchise results in 2020 R&D guidance coming in $60M above our forecast. We view the increased R&D intensity as a structural component of the merged Exact Sciences-Genomic Health infrastructure which offers potential for upside surprise to our revenue forecast beginning in 2021 while also pushing out time to profitability."

At $100 and nearly a $13 billion market cap, the $1.65 billion revenue projection for this year makes EXAS trade at a forward price-to-sales multiple of under 8X.

Guardant Shares Are Not Cheap and Here's Why

Meanwhile, Guardant Health looks very expensive trading at 29.5X sales ($8 billion market cap / $270 million sales). Why the big disparity in valuations?

Because Guardant, since its 2018 IPO, has been viewed in light of a more rapid growth phase by virtue of its 82% climb in 2018 sales and its likely 125% ascent to over $200 million in 2019.

But more so, Guardant is testing liquid biopsy as a detection modality that could offer an important alternative in the 100 million-patient colorectal cancer (CRC) screening market. Exact also has clinical trials ongoing in this area and the data readouts by middle of next year are highly anticipated.

According to SVB Leerink analysts who have a $130 price target on GH shares, they see data readouts by 2H21-1H22 from potentially 3 large 10,000+ patient prospective, registrational trials using liquid biopsy (LBx) in average risk CRC screening indication. This sets the stage for ultimately revealing whether LBx as a modality would succeed in the broader cancer screening market, challenging the longstanding role of colonoscopy as the standard of care in this market.

The analysts recently said "With the current commitments into these large blood-based 10,000+ patients trials costing $70M-$100M, we believe these companies see potential for liquid biopsy to hold a position in this large market ultimately."

They also noted two recent updates that confirm their conviction in GH. Guardant provided two product/pipeline updates around the JPM Healthcare Conference: 1) a collaboration with Amgen (AMGN) to develop a G360 companion diagnostic (CDx) for KRAS inhibitor AMG 510, and 2) Initiation of NRGI005 COBRA study aimed at validating the utility of Guardant's molecular residual disease (MRD) LUNAR-1 assay for selecting patients for adjuvant chemotherapy in stage II colorectal cancer (CRC). "We view these developments favorably and are pleased to see a continued global pharma partnership focus as GH pursues the $50B+ liquid biopsy market."

This Amgen partnership is obviously a big plus for Guardant. And it's possible that after the Exact buyout of Genomic Health that some investors look at GH as a potential acquisition target by a much larger player like Amgen or Biogen (BIIB).

After a big 2019 post-IPO rally, GH shares fell from above $110 to $60. Then Q3 earnings got investors interested again in the story at a better valuation. In fact, the fourth quarter of 2019 saw net accumulation by institutional investors, with one of my favorite stock-pickers, Andreas Halvorsen at Viking Global, adding 960K shares to bring his haul to 3,834,753.

Meet the Young Upstart: Invitae

Invitae, whose sales are also expected to eclipse $200 million for 2019 (we'll know when they report today), will be watched closely by investors and analysts who want to see and understand their 2020 game plan for 725,000 genetic test samples and $330 million in sales, which would represent more than 50% annual growth in both volume and revenue.

This full-year guidance was recently revised downward from their goal of 1 million tests and $500M in revenues.

Challenges for all of these companies include making money when the cost of testing is coming down so quickly and making sure that insurance reimbursement is available. Invitae has a head start in this arena after being selected by UnitedHealth (UNH) as one of only 7 key providers in their Preferred Lab Network, which includes the Mayo Clinic.

Plus, Invitae is creating a bigger brand footprint by offering many tests for free to those in need. In July, the company announced their Detect programs to provide no-charge genetic testing for conditions in which testing is underutilized and can improve diagnosis and treatment.

According to Invitae, research has shown no-charge testing programs result in earlier diagnosis and treatment. Enrollment was opened for Detect programs in four conditions: muscular dystrophy, prostate cancer, cardiomyopathy and arrhythmia and lysosomal storage diseases.

And in September, Invitae expanded the Detect program by announcing the availability of Detect Hereditary Pancreatic Cancer, a testing program that offers no-charge genetic testing and counseling to patients with pancreatic cancer. Genetic testing is recommended by clinicians for all pancreatic cancer patients to guide treatment choices and evaluate eligibility for clinical trials.

While the Detect no-charge programs are a net cost for the company, they create a wider data set for research in addition to fostering good will throughout public and medical communities.

In the neighborhood of innovation, Invitae announced in November the launch of Invitae Discover, a clinical research platform that leverages biometric data available through Apple Watch to provide better understanding of the genetic causes of disease. The first study on the platform will evaluate genetics in cardiovascular disease and was announced in conjunction with the American Heart Association's Scientific Sessions where researchers are presenting data on genetic screening in familial hypercholesterolemia.

Then in January, Invitae announced with BioMarin Pharmaceutical that Biogen, Encoded Therapeutics, Neurogene, Praxis Precision Medicines and PTC Therapeutics joined Behind the Seizure, an innovative, cross-company collaboration that aims to provide faster diagnosis for young children with epilepsy. The program will also be expanded to make no-charge testing available for healthcare providers to order for any child under the age of eight who has an unprovoked seizure.

While Guardant is expensive relative to EXAS and NVTA, it remains a unique leader in its specialties and I would recommend owning any two of these genetic diagnostics companies to remain at the forefront of the genomic revolution.

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Bull of the Day: Guardant Health (GH) - Yahoo Finance

The report carefully examines the Direct-To-Consumer (DTC) Genetic Testing Market, with a focus on most of the major players and their business strategies, geographical scope, market segments, product landscape and price and cost structure. Each section of the research study is specially prepared to investigate key aspects of the Direct-To-Consumer (DTC) Genetic Testing market. The area of market activity, for example, drivers, restrictions, trends and opportunities in the global market for Direct-To-Consumer (DTC) Genetic Testing is explored in detail. Through qualitative and quantitative analysis, we support you in a comprehensive and comprehensive analysis of the Direct-To-Consumer (DTC) Genetic Testing market. We also focus on the five forces analysis of SWOT, PESTLE and Porter in the Direct-To-Consumer (DTC) Genetic Testing market.

Direct-to-Consumer (DTC) Genetic Testing Market was valued at USD 789.92 Million in 2018 and is projected to reach USD 2,361.12 Billion by 2026, growing at a CAGR of 14.59% from 2019 to 2026.

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The main Companies operating in the Direct-To-Consumer (DTC) Genetic Testing Market are listed in the report.

Direct-To-Consumer (DTC) Genetic Testing Market: Competitive Landscape

The players who lead the Direct-To-Consumer (DTC) Genetic Testing market are analyzed taking into account their market share, the latest developments, new manufacturers, associations, acquisitions and markets. We also provide a comprehensive analysis of your product portfolio to explore the product and the applications that you focus on while operating in the Direct-To-Consumer (DTC) Genetic Testing market. In addition, the report offers two different market forecasts: one is the production side and the other on the use side of the Direct-To-Consumer (DTC) Genetic Testing market. It also provides practical advice for newcomers, as well as for established players in the world of smart camera market.

Direct-To-Consumer (DTC) Genetic Testing Market: Segment Analysis

This chapter focuses on the different segments in the Direct-To-Consumer (DTC) Genetic Testing market. The report segments the market by type, application, product, service and end user. This division enables a detailed view of the motif. It helps to understand the changes in production and the general needs of consumers that are likely to affect these segments.

Direct-To-Consumer (DTC) Genetic Testing Market: Regional Analysis

The chapter on regional analysis highlights the political scenario in emerging and industrialized countries that is expected to affect the dynamics of supply and demand. Regional analysis also helps identify the changing needs of the population that have a critical impact on the general market for Direct-To-Consumer (DTC) Genetic Testing . This part of the research report also took into account labor costs, raw materials and production costs by region.

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Table of Content

1 Introduction of Direct-To-Consumer (DTC) Genetic Testing Market

1.1 Overview of the Market1.2 Scope of Report1.3 Assumptions

2 Executive Summary

3 Research Methodology of Verified Market Research

3.1 Data Mining3.2 Validation3.3 Primary Interviews3.4 List of Data Sources

4 Direct-To-Consumer (DTC) Genetic Testing Market Outlook

4.1 Overview4.2 Market Dynamics4.2.1 Drivers4.2.2 Restraints4.2.3 Opportunities4.3 Porters Five Force Model4.4 Value Chain Analysis

5 Direct-To-Consumer (DTC) Genetic Testing Market , By Deployment Model

5.1 Overview

6 Direct-To-Consumer (DTC) Genetic Testing Market , By Solution

6.1 Overview

7 Direct-To-Consumer (DTC) Genetic Testing Market , By Vertical

7.1 Overview

8 Direct-To-Consumer (DTC) Genetic Testing Market , By Geography

8.1 Overview8.2 North America8.2.1 U.S.8.2.2 Canada8.2.3 Mexico8.3 Europe8.3.1 Germany8.3.2 U.K.8.3.3 France8.3.4 Rest of Europe8.4 Asia Pacific8.4.1 China8.4.2 Japan8.4.3 India8.4.4 Rest of Asia Pacific8.5 Rest of the World8.5.1 Latin America8.5.2 Middle East

9 Direct-To-Consumer (DTC) Genetic Testing Market Competitive Landscape

9.1 Overview9.2 Company Market Ranking9.3 Key Development Strategies

10 Company Profiles

10.1.1 Overview10.1.2 Financial Performance10.1.3 Product Outlook10.1.4 Key Developments

11 Appendix

11.1 Related Research

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Verified market research partners with clients to provide insight into strategic and growth analytics; data that help achieve business goals and targets. Our core values include trust, integrity, and authenticity for our clients.

Analysts with high expertise in data gathering and governance utilize industry techniques to collate and examine data at all stages. Our analysts are trained to combine modern data collection techniques, superior research methodology, subject expertise and years of collective experience to produce informative and accurate research reports.

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TAGS: Direct-To-Consumer (DTC) Genetic Testing Market Size, Direct-To-Consumer (DTC) Genetic Testing Market Growth, Direct-To-Consumer (DTC) Genetic Testing Market Forecast, Direct-To-Consumer (DTC) Genetic Testing Market Analysis, Direct-To-Consumer (DTC) Genetic Testing Market Trends, Direct-To-Consumer (DTC) Genetic Testing Market

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Direct-To-Consumer (DTC) Genetic Testing Market Size, Current Trends, Business Opportunities, Market Challenges and Analysis by 2026 - News Parents

Genetic test results dont add much, if anything, to the risk factor predictions about who will develop cardiovascular disease, according to two studies published in this weeks JAMA.

The study results, while far from the final word, may dent further dent the reputation of genetic testing and give ammunition to skeptics who believe its not ready for clinical use. Payers and providers taking on financial risk may have another reason to tap the brakes.

The findings of both these articles lend further support to the lack of meaningful improvement in risk stratification for CAD [coronary artery disease] in different populations of middle-aged individuals of European ancestry when genome-wide risk scores are added to pooled cohort equations, says an accompanying editorial, which acknowledged that the utility of the tests in a younger or more diverse population remains an open question.

One of the studies used a polygenic risk score developed from a case-control study about 16,000 CAD cases with matched controls. The researchers, most of whom are at the Imperial College Londons School of Public Health, then applied it to a 350,000 individuals from the UK Biobank, 6,272 of whom had a heart attack or some other CAD event during a median follow-up period of eight years. When the polygenic risk score for CAD was used, the predicted risk changes by less than 1% for nearly 80% of the participants. At a risk threshold of 7.5%, 526 of the 6,272 (8.4%) were correctly reclassified to the higher risk category but 240 (4%) were incorrectly moved to a lower risk category. Among the 346,388 noncases, more individuals were incorrectly moved up to a high-risk category than correctly moved down to a lower one (6,723 vs. 5,284) when the polygenic risk score was used.

Lead author Joshua Elliott and his colleagues characterized the number of people meaningfully changing risk category as relatively small and noted the worse reclassification among the noncases.

The other study used data from the 4,847 adults in the Atherosclerosis Risk in Communities study and 2,390 people participating in the Multi-Ethnic Study of Atherosclerosis. The research team, led by Jonathan D. Mosley at Vanderbilt, tested how the addition of a polygenic risk affected prediction of CHD events (heart attacks, silent infarctions, revascularization procedures) over a 10-year period. They found that the testing did not significantly improve classification accuracy in either study and, furthermore, among those who developed CHD the reclassification were incorrect about 80% of the time.

Mosley and his colleagues noted that their findings are in keeping with the frequent mismatch between statistical association and predictive performance for risk biomarkers. They noted that the odds ratio associated with being in the top 5% of the polygenic risk score (about 4) is similar to other biomarkers like C-reactive protein and homocysteine that have been shown to have similarly modest predictive utility.

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JAMA Studies: Genetic Tests for Heart Disease Don't Have Much Predictive Power - Managed Healthcare Executive

The Global Genetic Testing Market is valued at 11.8 billion USD in 2018 and is expected to grow at a CAGR of 11.9% between 2019 and 2025. Rapid industrialization, rising demand for the Genetic Testing, and brisk technological advancements are expected to fuel the market growth during the forecast years.

The global genetic testing market is majorly driven by the importance of early disease diagnosis and prevention, growing need for personalized medicine, increasing application of genetic testing in oncology and increasing awareness on the importance of prognosis and predictive screening. The market is affected by the high costs involved in the genetic testing development and lack of skilled professionals.

Promoting awareness through the government is one of the major factors driving the genetic testing market globally. The government is taking certain initiatives on launching a large number of PGx tests & drugs, controlling the increasing level of genetic disorders, and integrating advanced technologies to meet the needs of patients.

The global Genetic Testing market is deeply analyzed by Market Research Report in a thorough and eclectic research study. The coherent and systematic format of the report allows clients, researchers, stakeholders, and company officials to comprehend the entire market structure.

The report covers several vital market facets that could influence, hinder, or drive market growth momentum. Also, competition in the global Genetic Testing market is evaluated in the report alongside crucial market segments industry environment, and prominent market competitors.

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It also employs diverse analytical tools including Porter's Five Forces Analysis, SWOT Analysis, and Maturity analysis to dig deep into the Genetic Testing market's competitive advantages, various threats, and the existing stage of the market. The report also studies the historical and present events in the Genetic Testing industry in order to provide authentic estimates that will help clients in operating their business accordingly.

The global Genetic Testing market report further hints at market opportunities and challenges, which can be converted into substantial business gains. Potential market threats, risks, uncertainties, and obstacles are also discovered in the report, which can slash the intensity of losses poised to encounter in the near future.

Competitive Scenario of the Global Genetic Testing Market:

The report further enlightens an in-depth analysis of robust Genetic Testing manufacturers/companies and their performance in the market to provide acute knowledge of the competitive intensity of the market. It also studies their pursuits such as product research, development, innovation, and technology adoptions that help players in delivering better fit products in the global Genetic Testing industry.

Their strategic moves were analyzed in the report, including mergers, ventures, amalgamations, acquisitions, product launches, and brand promotion.

Valuable insights into companies' gross margin, Genetic Testing sales volume, profit margin, revenue, growth rate, serving segments, a pricing structure to facilitate clients to intuit the strengths, weaknesses, and market position of their rivals. It also explores their manufacturing base, production facility, volume, capacity, raw material sources, key raw materials, distribution networks, global presence, value chain, effective technologies, equipment, and import-export practices are also covered in the report that provides insightful acumen to understand how leading players are operating their business.

Obtain Detailed Comprehension of the Global Genetic Testing Market

The global Genetic Testing market has been divided into several crucial market segments such as types, applications, regions, end-users, and technology. The report provides concise delineation of each segment considering current demand, revenue, sales, and growth forecasts.

The analysis drives market players to select appropriate market segments and precisely intuit the actual target market size. It also includes a detailed rundown of major regions including North America, Europe, South America, the Middle East & Africa, and the Asia Pacific.

Genetic Testing Market Segmentation by Type:

Genetic Testing Market Segmentation by Application:

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Global Genetic Testing Market projected to gain maximum revenue and share during the forecast period scrutinized in the new analysis - WhaTech...

The announcement by 23andMe, a company that sells home DNA testing kits, that it has sold the rights to a promising new anti-inflammatory drug to a Spanish pharmaceutical company is cause for celebration. The collected health data of 23andMes millions of customers have potentially produced a medical advance the first of its kind. But a few weeks later the same company announced that it was laying off workers amid a shrinking market that its CEO put down to the publics concerns about privacy.

These two developments are linked, because the most intimate data we can provide about ourselves our genetic make-up is already being harvested for ends we arent aware of and cant always control. Some of them, such as better medicines, are desirable, but some of them should worry us.

Launched in Silicon Valley in 2007, 23andMe offers genetic tests direct-to-consumer (DTC) that is, independently of any healthcare system. The company collects genetic information about people, as well as information about their health, behaviour and much more besides. This allows it to identify links between certain genes and, say, a disease, and then through its therapeutics division to develop drugs that interfere with the action of disease-causing genes.

Companies such as 23andMe have proliferated over the past decade, feeding peoples hunger to know who and where they come from, and what diseases their genes might predispose them to. Over that time, it has gradually become clear that the main source of revenue for at least some of these companies comes from selling the data on to third parties.

Some DTC companies, such as 23andMe, are transparent about the sharing of data. When you sign its contract, you are asked if you consent to your data being used for research, and roughly 80% of 23andMes customers do. Other companies are less forthcoming. A 2016 survey showed that only a third of the 86 companies then offering genetic testing services online explained to customers how their data would be used.

The trouble is, a health tech company is not a doctor. It doesnt take the Hippocratic oath, and the patient or customer is not the person whose wellbeing it is most concerned about. It is not obliged to talk you through its terms and conditions, and it could change these at any time though in some jurisdictions this may void your consent. You can also withdraw your consent at any time, but that withdrawal generally takes time to come into effect, and in the meantime your data may have been passed on after which it is harder to get it back. Erasing it entirely is harder still.

And what rights do the customers have over the product developed from their data? DTC companies are far from the only ones collecting sensitive data about you. National health systems, health insurers and, increasingly, social media providers are too. Its already being used in research designed to improve our health and wellbeing, and there is a legitimate question to be asked about compensation. 23andMe, for example, asks its customers to waive all claims to a share of the profits arising from such research. But given those profits could be substantial as evidenced by the interest of big pharma shouldnt the company be paying us for our data, rather than charging us to be tested? There are echoes of Henrietta Lacks here, the African-American woman whose cells became a workhorse of biomedical research after she underwent a biopsy in 1951, and who was never compensated (nor did she give her consent, but that was allowed under US law at the time).

The larger issue, though, is that with all of these databases there is ambiguity about who has access to them, and for what purposes. Besides pharmaceutical companies, others who might want such access include insurance companies, individuals involved in paternity or inheritance disputes, and law enforcement agencies. 23andMe states that it does not grant access to the police, but other companies such as FamilyTreeDNA boasts that it does. A suspect accused of being Californias notorious Golden State Killer was finally arrested in 2018 after investigators matched a DNA sample from a crime scene to the results of DTC testing uploaded on to a public genealogy site by a relative of his. Government-run biobanks have also granted access to police. This was how a conviction was secured against Swedish foreign minister Anna Lindhs assassin in 2004. And experts speculate that in future, biological data could be used for identifying terrorist suspects, tracking military personnel, and the rationing of treatment in overstretched health systems.

National legislation varies widely across Europe, with respect to DTC genetic testing. France and Germany essentially ban it, unless done under medical supervision and consumers can be fined for ordering tests outside a clinical setting, while Luxembourg and Poland allow it with minimal restrictions though, of course, any restrictions are difficult to police for tests bought online. The UK is somewhere in the middle, allowing the tests but insisting on informed consent. The European Unions General Data Protection Regulation (GDPR), which came into effect in 2018, imposes strict requirements on secondary use of data, and it applies to any company in any jurisdiction that targets EU-based individuals for goods or services. Those individuals strip away their own GDPR protection, however, when they contact foreign companies that dont explicitly target them. The UK recently signalled that it will not remain aligned with the GDPR after the Brexit transition period.

These are the privacy concerns that may be behind layoffs, not only at 23andMe, but also at other DTC companies, and that we need to resolve urgently to avoid the pitfalls of genetic testingwhile realising its undoubted promise. In the meantime, we should all start reading the small print.

Laura Spinney is a science journalist, novelist and author

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Your DNA is a valuable asset, so why give it to ancestry websites for free? - The Guardian

Any way you look at it,Invitae (NYSE:NVTA)is smoking hot right now. The stock soared 46% last year and is up more than 60% so far in 2020.

But Invitae's sizzle fizzled at least somewhat after the medical genetics company announced its fiscal 2019 fourth-quarter and full-year results following the market close on Wednesday. Here are the highlights from Invitae's Q4 update.

Image source: Getty Images.

Invitae's revenue jumped 46% year over year in the fourth quarter to $66.3 million. That's the good news. The bad news is that this result fell short of the average analyst Q4 revenue estimate of $68.14 million.

The company reported a net loss of $76.9 million, or $0.79 per share, based ongenerally accepted accounting principles (GAAP). This trended in the wrong direction from the net loss of $29.8 million, or $0.40 per share, posted in the prior-year period.

Invitae announced an adjusted net loss in Q4 of $61.3 million, or $0.63 per share. While this loss was much wider than the adjusted net loss of $31.4 million, or $0.42 per share, recorded in the same quarter of 2018, it was a little better than the consensus Wall Street estimate of a Q4 net loss of $0.65 per share.

CEO Sean George attributed his company's strong revenue growth to several factors. He noted that Invitae expanded its customer base and saw strong reorder rates among new accounts. George also said that the company "made it easier to access our testing, both through traditional payers and via unique partnership programs."

George had predicted over 500,000accessioned samples for full-year 2019 in his comments during Invitae's Q3 conference call in November. But Invitae reported only 482,000 accessioned samples for the year, with the Q4 total sample count of 148,000 coming in lower than expected.

Accessioned samples are the key metric the company uses. The term refers to DNA samples that have been accepted into Invitae's labs and tracked in its system (as opposed to a sample that is collected at a physician's office but not sent to the lab).

Other key developments in the fourth quarter included Invitae's announcement in November that it plans to acquireClear Genetics, a leading developer of software for providing genetic services. The company also announced an initiative with BioMarin Pharmaceuticalto provide genetic testing at no cost to patients with signs or symptoms of skeletal dysplasias, a group of rare bone and joint disorders.

Invitae expects that more than 725,000 samples will be accessioned in full-year 2020. The company projects revenue of over $330 million for the year, up more than 50% from 2019.

Sean George said: "We enter 2020 with momentum and a unique business model that we believe is well positioned to deliver genetics-informed healthcare to patients. As we continue to scale our business, we are confident our approach and the investments we are making will further strengthen our ability to bring affordable, accessible genetic information to billions of people worldwide."

But Invitae is a growth stock with a market cap that can't be justified on its current revenue. It's still not profitable. As a result, any bump in the road is likely to cause the stock to fall. The Q4 update appears to be just such a bump, with shares sinking around 9% in after-hours trading.

Link:
Why Invitae's Q4 Results Failed to Wow Investors - Motley Fool

Are you genetically predisposed to some diseases? Do you carry genetic mutations that can impact the health of your child? A debit card-sized IndiGenome card, recently unveiled by the government, will help you find the answers if your genetic information is captured in a database that India's umbrella research organisation - the Council of Scientific and Industrial Research (CSIR) - is building. Once your genome is sequenced from your blood sample and added to this database, the card can be used to read the information embedded in your genes, just as your debit card is used to generate a financial transaction statement from your bank's database.

Well, the card is not the key. Genome sequencing - or mapping the pattern of the basic building block of every living cell - is. A genome contains all of a living being's genetic material (simply put, the genome is divided into chromosomes, chromosomes contain genes, and genes are made of DNA). Each genome has approximately 3.2 billion DNA base pairs, and the way they are arranged, or variations and mutations in their pattern, can provide clues about the individual's health or ill health, inherited or acquired. Already, 1,008 individuals, chosen to represent India's social, ethnic and geographic diversity, have been issued such cards. Over 280 doctors in 70 institutions have been trained to make sense of such data. A CSIR institute, the Institute of Genomics and Integrative Biology (IGIB) - which is spearheading the Genomics for Public Health in India, also called IndiGen project - is planning to enrol 20,000 Indians for whole genome sequencing in the next couple of years to build a larger database. The data will be important for building the knowhow, baseline data and indigenous capacity in the emerging

area of precision medicine. IndiGen will have applications in a number of areas, including faster and more efficient diagnosis of rare diseases. The other benefits are cost-effective genetic tests, carrier screening applications for expectant couples, enabling efficient diagnosis of heritable cancers and pharmacogenetic tests to prevent adverse drug reactions.

In fact, IGIB leads two other programmes - Genomics for Understanding Rare Diseases India Alliance (GUaRDIAN) Network and Genomics and other Omics tools for Enabling Medical Decision (GOMED), led by Dr Mohammed Faruq, to see that the genome database and genetic screening leads to development of cost effective diagnostic tools and tests that are licensed out to private and public medical institutions.

The world over, fall in cost for genome sequencing (a reason for which is increase in computing power) is leading to path-breaking applications spanning the entire spectrum of healthcare - diagnosis to treatment and drug development to prevention and wellness - and unrelated fields such as agriculture, animal productivity, environment, sports and many more. Consider this: CSIR took six months to sequence the genomes of 1,008 Indians. Seventeen years ago, a global initiative led by the US National Academy of Sciences, had taken 12 years, and spent $3 billion, to complete the sequencing of the first human genome. Today, sequencing a person's genome does not cost more than $1,000. In fact, Sam Santosh, Chairman of MedGenome Labs, a private venture, says he can sequence a complete human genome in his Bengaluru lab for $500-600.

The Industry

The catalyst for the IndiGen project was advent of Next Generation Sequencing (NGS) in the last decade or so. (NGS helps an entire human genome to be sequenced in a day. The previous Sanger sequencing technology used to take over a decade.) The technology is being used by both IGIB and MedGenome for high-throughput sequencing, i.e. sequencing hundreds of thousands of genes in one go.

IndiGen is a good start but there are countries that are much ahead. Genomics England, a public-private partnership between the UK government and world's biggest NGS sequencing machine maker, Illumina, has completed sequencing of 1,00,000 genomes of British citizens comprising a mix of cancer patients, rare disorder patients and healthy people. A new agreement for sequencing of 3,00,000 genomes, with an option to increase it to 5,00,000 over the next five years, was signed by the two partners on January 13. "Countries such as Estonia and Iceland are attempting to sequence every single citizen and link the data with their health schemes. The US has decided to do it for every single rare disorder patient," says Praveen Gupta, Managing Director & Founder, Premas Life Sciences - the authorised partner of US-based Illumina in India.

"The global high-throughput genomics industry will be in the range of $10-12 billion. With an estimated 25-30 per cent annual growth, it is expected to become a $25-30 billion market in the next three-four years," he says. Premas sells tools (reagents, platforms, software, training) to labs that do genetic testing in India. With 90 per cent market share, it drives NGS technology in India, too. "The high-throughput genomics market in India, including reagents, instruments and services, will be about Rs 500 crore. Approximately 50,000 samples must be reaching India's clinical (service) market on an annual basis," says Gupta.

Dr Sridhar Sivasubbu and Dr Vinod Scaria, IGIB scientists at the forefront of the IndiGen programme, say genome sequencing is just one piece of the initiative. IGIB has two other programmes - Genomics for Understanding Rare Diseases India Alliance (GUaRDIAN) Network and Genomics and Other Omics Tools for Enabling Medical Decision (GOMED) - to ensure their genome database and genetic screening lead to development of cost-effective diagnostic tools and tests that can be licensed out to private and public healthcare institutions. "GUaRDIAN focuses on rare diseases. Given that we are a billion-plus people, even the rarest of the rare diseases is found in a few lakh people. So, this programme caters to 70 million people living with some genetic disease. We find technological solutions for these 7,000-odd diseases and partner with a network of 280 clinicians across 70-odd institutions to offer our solutions," says Sivasubbu.

"Patients and their families connect with us through the GUaRDIAN network. We sequence their genes to find the mutation, and once we find it, we go back to their communities with a cost-effective test to identify that mutation. You just have to look for that single mutation in others, and that's cost-effective," says Scaria. Instead of whole genome sequencing, which costs between Rs 50,000 and Rs 1,00,000, a single assay developed by IGIB through these programmes costs Rs 2,000. The team led by Sivasubbu and Scaria has developed 180 tests for 180 genes and transferred the technology to private diagnostic labs. The institute itself has catered to about 10,000 patients and carried about 25,000 tests in the last two years. "We have entered into partnerships with about a dozen companies. The format of the collaboration depends on the business models they follow," says Sivasubbu.

Premas Life Sciences

The authorised partner of US-based Illumina in India provides tools (reagents, platforms, software, training and troubleshooting) to labs engaged in genetic testing in India. With 90 per cent market share, it drives the New Generation Sequencing technology in India

It works in areas other than healthcare, too. For example, Tagtaste, an online platform for food professionals, uses the company's services to understand the genomics of taste. It has customers and partners such as Pepsico, Coca Cola, Nestle and ITC

Dr Lal PathLabs

The company has licensed diagnostic tests for 27 conditions from Institute of Genomics and Integrative Biology (IGIB)

Has a portfolio of more than 200 different types of tests

It is active in fields like rep- roductive health, cancer di- agnosis, pharmacogenomics

Medgenome Labs

The Bengaluru-based player considers itself as the private sector avatar of IGIB. It offers not just genetic tests but also carries out research. It has collaborated with Singapore's Nanyang Technological University to sequence 1,00,000 whole genomes from Asia. The Genome Asia project has already completed sequencing 10,000 whole genomes, of which about 8,000 are from India

MedGenomes research associates recently sequenced and analysed the genome of the Cobra snake. The findings, published in Nature, suggest the possibility of developing a new method of producing anti-venom completely in the lab.

Lifecell International

The company is in the genetic testing space. It has tied up with IGIB and offers tests ranging from basic screening (prenatal screening, newborn screening, etc) to high-end ones based on NGS. It tests more than 50,000 patient samples every month

Mahajan Imaging

The company has set up a new R&D wing to focus on cutting-edge scientific and clinical research and help radiology and genomics companies develop world-class clinically relevant products. The idea is to integrate imaging and genomic data

Trivitron Healthcare

The Chennai-based chain wants to develop tools using genomic data that can work on conventional platforms. It is talking to IGIB and trying to get its knowhow for manufacture of products for sale to pathology labs

The Private Hand

Dr Lal PathLabs, a pathology lab chain with big plans in the genetic testing space, has an entire department for such tests. "We offer tests of all levels - Karyotyping, which looks at the macro level, Microarrays, which offer intermediate resolution, and NGS, used to elucidate the DNA sequence at the micro level. The fields we are active in include prenatal reproductive health, cancer diagnosis and pharmacogenomics (study of how genes affect a person's response to drugs). We have more than 200 tests and conduct around 300 tests per day," says Dr Vandana Lal, Executive Director, Dr Lal PathLabs. The company has licensed tests for 27 conditions from IGIB. "The imported technology is expensive. The idea to partner with CSIR labs is to bring these cutting-edge technologies to Indian masses at a reasonable cost," says Dr Lal.

Lifecell International is another player in the genetic testing space that has tied up IGIB. "We offer tests ranging from basic screening (prenatal screening, newborn screening, etc.) to high-end ones based on NGS. We test more than 50,000 samples a month. PCR-based tests range from Rs 2,000-5,000 whereas tests based on NGS and those involving sequencing of large parts of the genome can cost upwards of Rs 20,000," says Ishaan Khanna, CEO, Biobank & Diagnostics, Lifecell. He believes the IndiGen database will help in development of better analysis and interpretation tools. "Our focus is on developing rapid genome testing for children in NICU (Neonatal ICU) and similar other scenarios where doctors need clear actionable results in the shortest possible time. IndiGen provides the right mix of Indian genome database," he says.

But not every partnership is for access to cost-effective tests. Mahajan Imaging, a medical imaging chain, has set up a Centre for Advanced Research in Imaging, Neuroscience and Genomics to focus on research and helping radiology and genomics companies develop clinically relevant products. The idea is to integrate imaging and genomic data. "We started the project six months ago and are among the first imaging companies to get into genomics. In the next three-five years, it will be possible for an AI algorithm to look at the radiology image and give genomic readings on it," says Vidur Mahajan, Associate Director, Mahajan Imaging.

Chennai-based Trivitron Healthcare sees in IndiGene data an opportunity to develop multiple testing platforms. It wants to develop tools using genomic data that can work on conventional platforms. "There are almost 1,00,000 pathology labs in India. Hardly 500-1,000 must be doing genetic testing. Companies like ours are talking to IGIB and trying to get the knowhow to manufacture products for a larger population," says Jameel Ahmad Khan, Head, R&D, Trivitron. "IGIB will develop the knowhow, provide proof of concept, and we will convert it into a product which pathology labs without highly trained manpower can also run," he says.

Bengaluru-based Medgenome Labs considers itself a private sector avatar of IGIB, perhaps even a couple of years ahead in research and development. The company not only does genetic tests but also carries out research. It has collaborated with Singapore's Nanyang Technological University to sequence 1,00,000 whole genomes from Asia. The Genome Asia project has already completed sequencing of 10,000 whole genomes, of which about 8,000 are from India. On December 4, international journal Nature published the initial findings from the project - genetic variation, population structure, disease associations, etc., from a whole-genome sequencing reference dataset of 1,739 individuals of 219 population groups and 64 countries across Asia. "We sequence a person's genes and other relevant parts of the genome for specific mutations to understand what is causing the disease and specific drugs and dosage the person will respond to. We also help pharmaceutical companies understand genomes and discover new drug targets and biomarkers," says Sam Santosh, Chairman, MedGenome. With about 120 sales people, the company claims it is generating samples from around 10,000 clinicians across the country. "We were the first to enter the market. In that sense, we created the market, and would be having 60-65 per cent market share. The sequencing market must be in the range of $70-75 million," says Santosh. The company expects its diagnostic business to touch $100 million in four years. Interestingly, MedGenome's research associates recently sequenced and analysed the genome of Cobra snake. The findings, published in Nature, suggest the possibility of developing a new method of producing anti-venom completely in the lab.

Other Sectors

Illumina's India partner Premas Life Sciences is not selling its next generation sequencers only to healthcare firms. Gupta says it has more than 200 installations in India alone. "Anything which is living has a DNA nucleic acid and can be sequenced. We have a mass research market and practically every institute has the sequencer. Somebody will be working on cow, somebody on rice, a third institute on some bacteria," says Gupta.

IGIB researchers Dr Sridhar Sivasubbu and Dr Vinod Scaria vouch for this. The institute is getting requests, including partnership offers, from non-medical players. Tagtaste, an online platform for food professionals, wants to understand the genomics of taste. "In a lighter vein, you could say that the efficiency of a professional wine taster depends on his genes," says Scaria. With customers and partners such as Pepsico, Coca Cola, Nestle and ITC, and a clientele that includes chefs of global hotel chains, taste is serious business. "The point is, if a person is paying Rs 3,000 for a curry or Rs 5,000 for a soup, you better get the taste right," says Scaria. IGIB also works with Adam's Genetics for R&D and product development in the area of fitness. "One of the companies works in the cricket industry. Each player can be genetically tested for performance and food intake because not all muscles have the same size and some people gain weight, some don't gain muscle mass, while some may be more prone to injury. Genetic tests can find out who is prone to injury, or whether weightlifting is the right exercise for a player or not," says Sivasubbu.

The Future

Indians are 17 per cent of the world's population. But only 0.2 per cent genomic data is from the Indian population. This is one area where India can lead. We have so many diseases, and if we can provide the genetic design, the world can develop diagnostics and therapies. "We can create ideas. We didn't invent computers but we created the IT industry. In the same way, we didn't invent genomic sequences but tomorrow we can create a genome informatics economy," says Premas' Gupta.

There are other possibilities, too. "A lot of pundits say that in the next five-six years, 15 per cent of the world's population will be whole genome sequenced. If I require 100 GB data for a genome sequence, for 1.5 billion people, 25-30 exabytes of data will be needed. The entire data content on YouTube, globally, is 0.8 exabytes. Imagine the kind of data generation and analytics possibilities we are talking about," says Gupta. "We need people to analyse this data. If we can take the lead and train our manpower, we can move the world, we can create a new industry which can lead for the next 20 years just the way the IT industry did," he adds. Incidentally, Gupta claims that TCS has already bought Illumina's sequencing platform. So has WIPRO. It seems IT companies are already sensing an opportunity.

Sivasubbu says it took India 10 years to scale up from sequencing one genome to 1,000 genomes. "In the next decade, it may be a million."

@joecmathew

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The Gene Business - Business Today

SEATTLE Morgen White has always wondered what her biological father would be like. She grew up only knowing him as "Donor #893". That changed last year when the genetic testing site 23 & Me connected them.

"Donor #893" was Spokane's Ryan Johnson and he reached out to Morgen and her mother Liz White. The Ballard teen got to meet Johnson, his wife and 3 children and has spent the last year building a relationship.

Morgen says she's been connected to at least 9 other half-siblings, all from the same donor, and loves having so many people that care about and support her. She first wrote about meeting Ryan as part of her internship with KUOW Radioactive Youth Media program.

Segment Producer Suzie Wiley. Watch New Day Northwest 11 AM weekdays on KING 5and streaming live on KING5.com.Contact New Day.

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Connected through genetic testing, Ballard teen meets her sperm donor - KING5.com

In 2004, Dr. Michael Ackerman got an unexpected phone call.

On the other end of the line was a medical examiner in Kentucky who had recently performed a befuddling autopsy on a 12-year-old Amish girl.

He was perplexed why this seemingly healthy Amish child died suddenly during play, said Ackerman, a genetic cardiologist at Mayo Clinic who studies why some young people die unexpectedly. And he says, I have DNA for you.

Ackerman, who also leads Mayos Windland Smith Rice Sudden Death Genomics Laboratory, pioneered a postmortem test to detect genetic causes behind sudden death. The medical examiner in Kentucky had heard about his work.

That phone call would ignite more than a decade of genetic sleuthing across multiple states to understand why a healthy Amish child had died without an obvious explanation. The mystery of her death and later, the deaths of more than a dozen other Amish children would vex researchers and clinicians for years, until Ackerman and his colleagues finally made a breakthrough in their Mayo lab.

Those findings were recently published in the JAMA Cardiology medical journal. Now, those same researchers are working to find a treatment.

Not long after the medical examiners call in 2004, Ackerman and his team were just beginning their research into the girls DNA when tragedy struck again. Four months after losing their daughter, the family lost her 10-year-old sister under similar circumstances suddenly, while she was outside playing.

Ackerman said his research team had a hunch the siblings deaths involved a gene called RYR2. When there's a single error on the gene, it causes an irregular heart rhythm that often reveals itself in the form of fainting spells while exercising. It can be fatal.

But that was more than 15 years ago, and medical research tools hadnt quite caught up to the teams needs.

Back then, it was painfully slow. It sort of was one gene at a time, Ackerman said.

After extensive testing of the girls' DNA, the Mayo researchers still had no answers.

We basically had a project that was stalled and would stay stalled until we would have evolution of technology, Ackerman said.

Over the next decade, 16 more Amish children died while exercising, without warning. The same family that lost their daughters in 2004 lost two more children under similar circumstances. Amish children in other states died, too.

While Mayos research languished, more than a thousand miles away, doctors at the Nemours/Alfred I. duPont Hospital for Children in Wilmington, Del., encountered a similarly tragic story.

In 2005, a young, apparently healthy Amish child was playing and died suddenly. The autopsy revealed no obvious cause. Several years later, the girls sister experienced cardiac arrest but survived and she is still living, 15 years later.

This started a trend, essentially, in their family, said Kristi Fitzgerald, a genetic counselor at Nemours and an author of the JAMA paper. Its not just a fluke chance, a terrible, tragic event. Now with two girls in one family, the presumption was that this probably was a genetic cause, something to do with a genetic arrhythmia.

But just as in Ackermans lab in Rochester, Minn., genetic testing at Nemours turned up nothing.

Over the years, Nemours staff collaborated with Mayo staff, and in the process learned that the sisters who had died in Kentucky were from the same extended family as the child who had died in Delaware.

Researchers also identified additional relatives in Iowa who have the same genetic defect. To date, no members of Amish communities in Minnesota appear to have the condition.

Clinicians at Mayo and elsewhere are fiercely protective of the families affected, and declined to identify them to maintain their privacy.

In Rochester, Ackerman and his staff continued to collect DNA samples from the children who died in this perplexing way, hoping someday to figure out the cause of their death.

They just needed the technology to catch up. In 2016, it started to.

Ackerman said new testing techniques revealed that the sudden deaths weren't caused by just one error on the RYR2 gene they were caused by 300,000 of them.

What's more, the risk of sudden death came only when the children inherited that faulty gene from both parents.

"We basically did genomic triangulation and figured that all of these sudden deaths and all of these different Amish communities were happening for the exact same reason: a double whammy, a double hit of this exact same duplication, Ackerman said.

Nemours pediatrician Matthew Demczko has made a career working with Amish children who live with an array of genetic abnormalities.

He said the genetic heart defect detected by the Mayo team is likely unique to the Amish community. Thats because researchers think people with the defect are all connected to a small number of people who established a particular Amish community from which the children affected were all descended. Those people are what Demczko calls "founder individuals."

Their genetic information has now become sort of the genetic thumbprint of the entire community, he said.

Demczko said Amish communities tend to be small and insular, and members of the community typically marry and have children with people who are also Amish.

That factor on top of the idea that from a cultural perspective, very few individuals come into the Amish community, there's really no introduction of new genetic material, he said.

Beating heart cells engineered from blood donated by two people living with a condition that has caused the sudden deaths of Amish children are shown on a microscope screen inside of the Mayo Clinic's Windland Smith Rice Sudden Death Genomics Laboratory.

Evan Frost | MPR News

Fitzgerald, Demczkos colleague, is on the front lines of screening members of Amish communities in their region for the defect. She said that Nemours positive reputation in nearby Amish communities helps in her work.

Word of mouth is important, she said. I think that's a great source of referral, to have a patient to say, We had a good experience. This went well.

Fitzgerald said her Amish patients ask the same questions about genetic testing as other families do: What will the test tell them? Why is the test important? What will they do with the information if they test positive?

And she said it's a misconception that Amish people shun medicine.

The families shes worked with, she said, have been open to testing and treatment.

"Parents want what's best for their child. It's about building a relationship, you know, with the family, she said. Most are not at all skeptical."

Fitzgerald said that some parents whose children have tested positive for the condition have opted to get an implantable defibrillator, which is the only available treatment.

But many Amish families dont carry health insurance, so that solution is not only invasive, but can be prohibitively expensive.

Back at Mayo, researcher Dave Tester is trying to better understand the genetic defect he helped discover. Now that theyve pinpointed the cause of the childrens sudden death, theyre trying to find a more affordable and accessible treatment.

"This is sort of phase 2 in this study, said Tester, who also authored the JAMA article.

To do that, the researchers turned to another novel approach: They engineered beating heart cells from blood samples donated by two people living with the condition.

He points to a cluster of heart cells undulating rhythmically under a microscope.

"These cells have the same exact genetic background that our patient does, he said. Here we can understand, at least from this patient's perspective what is the cell doing?"

Beating heart cells from blood samples donated by two people living with a condition that has caused the sudden death of Amish children.

Evan Frost | MPR News

In the coming months, Tester and his staff will perform a battery of tests on these cells, looking for clues that point them toward a better treatment.

But in the meantime, Mayo and Nemours continue to collaborate to understand just how common the condition is and how widespread. Their network has also extended to Iowa, where a genetic counselor is working with nearby Amish communities.

To ease that process, Mayo has made the test free for Amish families who may be affected.

Fitzgerald, the genetic counselor, is hopeful additional screening in Delaware and in other Amish communities will reveal more information about the condition.

And while she may not be able to offer her families a perfect solution today, at least they're starting to get some answers.

We don't want to give false hope, but I think it is important to tell families how far we come, she said. We tell people Hold on, stay tuned.

More:
Amish kids were dying mysteriously. Mayo scientists solved it. But can they treat it? - Minnesota Public Radio News

Senator Thomas J. Umberg (D-Santa Ana) announced today his introduction of legislation that would assure consumers that Direct-to-Consumer (DTC) genetic testing companies will use their genetic data solely for the purposes they consented to.

The fact that the Pentagon just warned all of the countrys military personnel to avoid home DNA tests should raise bright red flags for all consumers, said Senator Umberg. Direct-to-Consumer genetic testing companies have, to date, gone largely unregulated by either state or national governments. This has led to the disclosure of consumers private biological information to third parties.

Although the California Consumer Privacy Act (CCPA) regulates DTC genetic companies by allowing consumers to request information on how their data is being used and to opt out if they so wish, it does not solve the fact that current authorization forms are confusing, and consumers often lack clarity about what they are consenting to. Several media outlets have published stories in recent months of genetic data being improperly used to conduct drug research, discriminate against possible consumers in regard to insurance products, or being stored on hackable private servers.

In December 2019, the Pentagon issued a memo asking service members to not use DTC genetic services due to, the increased concern in the scientific community that outside parties are exploiting the use of genetic materials for questionable purposes, including mass surveillance and the ability to track individuals without their authorization or awareness.

Umbergs measure, Senate Bill 980, creates strict guidelines for authorization forms in a manner that allows consumers to have control over how their DNA will be used. In addition, the measure creates civil penalties for companies that fail to comply with the provisions within it. By passing this act, California would be joining four other states that have made it clear that consumers should control their genetic data without fear of third parties exploiting it. Forcing these companies to clarify their consent forms and requiring them to obtain written authorization for any genetic data disclosure, including de-identified data, will reassure California consumers that their most personal information is safe, noted Senator Umberg.

In support of SB 980, Emily Rusch, Executive Director of the California Public Interest Research Group (CALPIRG) noted that, Consumers deserve to have complete control over the sharing of our genetic data, the most personal, private information about our bodies. We strongly support this proposal to require consumers opt-in consent before genetic data is shared with third parties.

Senate Bill 980 (language attached) will be assigned to, and heard, by Senate policy committees in mid-late March.

Courtesy photo

Originally posted here:
Umberg wants consumers to control of their genetic data - EVENT NEWS

Ive had three miscarriages and one ectopic pregnancy, and every single time I blamed my body, says Danielle Campoamor, 33, a mother of two in New York. My self-hatred became so severe I couldnt look at myself in the mirror. I starved my body as if I was paying a penance. I spent so much of the mourning process asking what was wrong with me. What was wrong with my body.

The shame associated with miscarriage can be overwhelming. As a psychologist specializing in womens reproductive and maternal mental health, I find that counseling patients like Campoamor who blame themselves for their pregnancy losses is as common as loss itself. The women in my office are often riddled with guilt, revisiting every minute detail of their lives in search of the reason behind their miscarriage. In the haze of grief, they point the finger at themselves: Was it something they ate? Did they workout too often? Had they done something catastrophic in the weeks before they even knew they were pregnant?

Having access to concrete answers could change a lot.

At least half of all miscarriages are the result of an abnormal number chromosomes in the embryo, according to the American College of Obstetricians and Gynecologists. Its the most common cause of pregnancy loss. But getting access to the genetic testing of fetal tissue is complicated and costlygenetic testing is rarely offered to anyone whos experienced less than three miscarriages, and it can cost thousands of dollars. A new rapid genetic test, developed by Zev Williams, M.D., Ph.D., director of the Columbia University Fertility Center at New York Presbyterian Hospital, and his team, hopes to change that. The new test would take just hours to complete and could cost less than $200. Williams expects the test to be available within a year, but it will need to be approved by medical regulatory agencies.

Campoamor says that kind of info would have made all the difference when she was mourning her losses. What I wouldnt have given to have access to a test that wouldve let me know that my body didnt let me down, that there was a problem with the pregnancies from the beginning, she says.

A 2015 national survey published in the Journal of Obstetrics & Gynecology found that 47% of people whove had a miscarriage feel guilty, and 41% felt they had done something wrong to cause the pregnancy loss: 76% of Americans believe pregnancy loss is caused by a stressful event, 64% believe its caused by the pregnant person lifting a heavy object, 28% believe previously using an intrauterine device causes miscarriages, and 22% blame the use of oral contraceptives, according to the survey. I blamed my IUD. I blamed my decision to use birth control at the age of 15. I blamed my job, my work load, a harmless argument with my partner, running at the gym. I looked for any reasonanythingto blame for my losses, Campoamor says. Theres no evidence that any of these things contribute to miscarriage, but the stigma persists. Years later, I still have to work to not blame myself, what I ate, how much water I did or didnt drink. The self-blame just lingers.

After each loss I felt like I was in the dark. Information about why it happened, why my body didnt hold onto those pregnancies, wouldve felt like a lantern.

The same survey found that 78% of the participants reported wanting to know the cause of their miscarriage, even if no intervention could have prevented it from occurring. Thats precisely why this test is poised to be such a game changer. Getting women answers could help dissolve the feelings of shame and failure that so often shroud a miscarriage. A 2019 study found that one in six women experience long-term post-traumatic stress following a miscarriage, and 1 in 10 women meet the criteria for major depression directly following a loss. Bypassing the mystery can potentially lead to a smoother, less complicated emotional journey.

The test wont answer every question about a miscarriage. For starters, it requires tissue from the pregnancy to test, and doctors may not always have the opportunity to gather it. If a test reveals that there were no genetic abnormalities, it could trigger even more questionsand self-blameabout the cause. But even that can be helpful. In the minority of cases where the cause of the loss was not genetics, it allows us to look for the cause soonerbefore waiting for the women to have multiple more losses, says Williams. If a cause is discovered, it can be corrected so the couple can have the best chance for success in the next pregnancy.

As humans, we like to know why. Ive sat across from hundreds of women and heard the desperation in their voices as they search for a reason why they didnt carry a pregnancy to term. This test could help mitigate some of the psychological fallout of pregnancy loss by separating fact from fiction, science from a pervasive cultural misunderstanding that fuels self-blame and self-hatred.

After each loss I felt like I was in the dark, Campoamor says. Like I was just feeling my way through grief, trying to hold onto something, anything, before I floated away. Information about why it happened, why my body didnt hold onto those pregnancies, wouldve felt like a lantern. It wouldnt have assuaged my pain, but it would have lit a path through it.

Jessica Zucker is a Los Angeles-based psychologist specializing in womens reproductive health and the author of the forthcoming book I Had a Miscarriage: A Memoir, a Movement (Feminist Press, 2021).

More:
Women Blame Themselves for Miscarriages. This Test Could Change That - Glamour

Feb. 19, 2020 11:00 UTC

HUNTINGTON BEACH, Calif.--(BUSINESS WIRE)-- Cicero Diagnostics Inc., a womens healthcare diagnostic company, is pleased to announce the awarding of a $1 million Phase II SBIR Fast Track grant from the National Institutes of Health (NIH). The grant, titled "SIRT1 and BCL6: Dual Biomarkers of Endometriosis and Endometrial Receptivity follows completion of Phase I, successfully demonstrating concordance of the protein markers BCL6 and SIRT1 to endometriosis, a leading cause of unexplained infertility. According to the American Society of Reproductive Medicine, endometriosis is associated with 30-50% of all cases of unexplained infertility (over 500,000 cases a year). Cicero Diagnostics on-going commercialization of protein markers to assess uterine receptivity impacted by endometriosis inflammation has proven to be a significant breakthrough in helping women successfully achieve pregnancy.

Cicero Diagnostics currently offers BCL6 as part of their ReceptivaDx test for unexplained infertility, failed implantation and recurrent pregnancy loss. Over 300 fertility centers representing more than 1,000 reproductive endocrinologists across the US and globally are successfully using the test for assessing uterine lining dysfunction typically caused by endometriosis without the cost and invasiveness of surgical laparoscopy. Once identified and treated, outcomes data from both published studies and fertility centers using the test commercially have demonstrated significantly higher success rates in women with IVF failure histories.

Chris Jackson, CEO of Cicero Diagnostics, states, Were proud that ReceptivaDx has helped so many women challenged with infertility. While IVF success rates are now approaching 50-60%, we remain focused on finding answers for the 40-50% of patients where IVF and genetic testing of embryos still doesnt result in pregnancy. This doesnt even begin to address the financial and emotional toll experienced by these women, their partners and their families as a result of those failures. By detecting uterine lining conditions without requiring expensive invasive surgery, we have created a tremendous value proposition for women that have experienced IVF failure and want answers before repeating the IVF process. Phase II of the NIH grant will also let us focus on developing testing for the 85% of women in the US that dont have fertility coverage or the means for seeking advanced fertility help. Expanding the offering to the OB market has been a goal of Cicero Diagnostics from day one and remains a primary goal looking forward.

The Phase II portion of the NIH grant includes a broad range of prestigious universities with significant experience in fertility studies. Patients will be drawn from three main centers and include Wake Forest Health Sciences, University of North Carolina and Stanford University. The NIH grant will continue studies building on published data already in the public domain showing the accuracy of these markers in uncovering and treating women with unexplained infertility. The study is designed to end in late 2021.

Specifically, the new studies will:

Cicero Diagnostics is a medical diagnostic company located in Huntington Beach, California. ReceptivaDx is the companys signature test panel in the area of unexplained infertility. Cicero Diagnostics is the exclusive licensed provider of BCL6 and SIRT1 for the detection of endometriosis. Working with IVF centers across the U.S. and in 15 other countries, Cicero Diagnostics continues to expand their offering globally and is investing in continuing research in the field.

For more information, go to http://www.CiceroDx.com or http://www.ReceptivaDx.com.

View source version on businesswire.com: https://www.businesswire.com/news/home/20200219005339/en/

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Cicero Diagnostics Awarded $1 Million NIH Grant to Further Research on Markers for Unexplained Infertility, Failed Implantation and Recurrent...

Obit Larry Tesler self-described "primary inventor of modeless editing and cut, copy, paste" has died at the age of 74.

Tesler had a hand in many of the computing concepts taken for granted today. On his website he wrote: "I have been mistakenly identified as 'the father of the graphical user interface for the Macintosh'. I was not. However, a paternity test might expose me as one of its many grandparents."

After a stint at Stanford culminating in AI research in 1973, Tesler became a member of the research staff at Xerox's famed Palo Alto Research Center (PARC).

There, thanks to his intense dislike of operation modes of the era, he conceived and implemented many graphical user interface (GUI) features taken for granted today.

Tesler was very keen on "modeless" software, where a user would not have to, for example, use a keyboard to switch to a command mode before switching back to edit text. Tesler's vision was that a user's action should have a consistent effect there should be no "modes."

It is therefore unsurprising that while at Xerox PARC he laid claim to coming up with the ability to point and click to insert or overwrite text without needing to enter a mode. Entering a mode was also not required for the cut, copy and paste operations.

Apple snapped him up in 1980 and during his time at the firm he rose to vice president and chief scientist. He worked on user interface design and software engineering for the Lisa application API and led development of the first commercial object-orientated frameworks. He was also a voice of support of the spinout of Arm from Acorn (see below) and would go on to serve on Arm's board for 13 years.

Not mentioned on his CV was his involvement in Apple's personal digital assistant (PDA) Newton project, which Tesler took over in 1990 and set in motion events that would see the Arm dominance of today. The low power consumption of the silicon while idle appealed, as did its ability not to hammer the battery of the doomed handheld while running. The Newton, or MessagePad as it was eventually branded, launched in 1993, resplendent in a case designed by a young Jony Ive.

While innovative, the PDA did not set the market on fire and, despite updates, was eventually killed off in 1998, shortly after the return of Steve Jobs to Apple.

By then Tesler had moved on, putting four years into an educational software startup called Stagecast then to Amazon in 2001 and creating the usability group as well as managing data mining and market research to give Bezos' brigade a more effective insight in customers.

Between 2005 and 2008 he was VP of user experience and design at Yahoo! before a year-long stint as a product fellow at genetic testing outfit 23andMe. He rounded out his career as a technology consultant specialising in user experience management, research and design.

While Tesler's name may not have the fame (or infamy) of Jobs (or even Ive) his impact, his work from the earliest free-wheeling days of computing through to projects like the MessagePad continue to be felt today.

Sponsored: Detecting cyber attacks as a small to medium business

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Larry Tesler cut and pasted from this mortal coil: That thing you just did? He probably invented it - The Register

NEW HAVEN Death is not final in the Yale New Haven Hospital Pathology Department.

By going beyond the standard autopsy to examine a deceased patients DNA, the team led by Dr. Jon Morrow can find out the cause of an unexplained sudden death, including newborns, and inform families of inherited diseases that could help them make decisions about their health care.

As our knowledge of the genome has expanded there has increasingly been identified a number of genetic changes that have turned out to be causal in many of these cases of sudden death, said Morrow, chief of pathology for the hospital.

Yale New Haven is one of the few hospitals to do the intensive postmortem examination, and Morrow said they are interested in performing molecular autopsies on anyone whose family is willing to have one done or who has requested it before death, Thats because every exam adds to the body of knowledge about how genes contribute to disease.

It builds a database that helps us understand disorders at a deeper level than weve been able to do from normal autopsy, Morrow said.

Morrows team collaborates with the Yale School of Medicines Center for Genomic Health, which launched the Generations Project, which began in September with a goal of sequencing the DNA of 100,000 patients.

In a molecular autopsy, the pathology team looks at the exome, the 3 percent or less of the human genome that includes all of the genes involved in producing proteins. That 3 percent is responsible for everything you see in the body, Morrow said, because our organs are all made up of proteins. Its a very efficient way to look at almost everything thats important, he said.

The rest of the genome is involved in cellular structure, regulatory processes, how and when genes are switched on and off.

By examining the exome, pathologists can compare the individual to a reference database at the National Institutes of Health. The individual differences, called polymorphisms, are what can tell the doctors whether a patient who died from cancer did so simply because he smoked or because he had a genetic predisposition.

You always run what you find against this reference database, Morrow said. You can expect up to 70,000 variations in an individual. Most of those variations are innocuous. They dont have any real or deep pathologic significance.

By sequencing the genome, variations in alleles the pairs of genes that control characteristics will be identified and, if you find a variation in a patient that is extremely rare, lightbulbs go off, Morrow said. If that was a variation in a gene thats rare and a gene is known to control cardiac function, you would be very suspicious that that had to do with a cardiac malfunction.

In addition to finding the cause of death when a regular autopsy does not, Morrow said molecular autopsies have a larger goal of finding answers on the genetic level. He and his staff hope many people will consent to the procedure. Now, 12 to 14 percent of deceased patients undergo autopsies.

By looking at this exome, we get a pretty good view of what should be right. Theres wide variations in individuals, Morrow said. Some are pathologic, disease-causing. By moving beyond sudden death and extending these studies to all individuals now, we have a hope of explaining causes of all these conditions.

When word got out about Yale New Havens program, We had almost universal enthusiasm from a number of major medical centers [asking], Can we partner with you? Morrow said. Im hopeful wed be able to expand this to multi-institutional practices.

Some diseases, such as many cancers, start with genetic mutations that are caused by external factors, such as smoking. Those are called somatic mutations. What the molecular autopsy finds are inherited mutations that may give a predisposition to the cancer.

Were not sequencing tumors, were sequencing normal tissue, Morrow said. When we find a damaging lesion, that gene was present from birth and that gene was inherited.

Another example is alpha-1 antitrypsin deficiency, an inherited disorder that is responsible for both lung and liver disease. Its not that uncommon in the population and people get emphysema and liver disease later in life because of it, Morrow said. Finding out that a deceased relative had the disorder can help family members lessen their risk, by not smoking, for example.

Finding a genetic cause of death is especially valuable in fetal deaths that have no anatomic cause of death, he said. For a lot of these mothers, just reading their notes, they have a lot of guilt. So if we can identify through whole-exome sequencing, it would at least give them something. As many as 30 percent of stillbirths and infant deaths may be genetically caused, Morrow said.

They want to know sometimes, am I at risk? said Amanda Masters, a pathologists assistant on Morrows team. If we do find a genetic link, if it was inherited, it could help them and future generations.

Some families do not want the autopsy done, and a few consent to it but dont want to know the results, Morrow said. But almost all do want to understand how their relatives DNA may affect their health.

The hospital has agreed to provide one genetic counseling session free of charge to those families, Morrow said, adding that the results of the autopsy are sent to the genomics lab. Decisions are discussed. Do you need to be tested? You have to be very careful because you never want to send up false flags. Were very conservative in the way we approach this.

That is important because even genetic testing isnt infallible. When the genomic revolution started there was overpromising of what it could tell you, Morrow said. Besides wasting money on genetic testing, it also caused angst.

Often, even after a standard autopsy, we still dont know the reason why they died, even with slides and looking at tissue at a very, very close level, said Dr. Keith Churchwell, executive vice president and chief operating officer of the Yale New Haven Health System. The lack of information leaves a real void, he said.

Conducting a genetic examination of a deceased patient will reveal information for the next generations, for that family and for their children, Churchwell said.

Theres three aspects of doing this that I think are good, Morrow said. One is it helps us move the autopsy from what weve been doing into a new realm that helps get deeper answers into disease causation and relevance into that diseased individual. It offers a pathway for more rational decision-making for individuals related to the [deceased patient].

The third thing, which goes back to the Generations Project, [is] whether we find anything relevant or not to the disease. It provides a growing database that we can correlate the variations into, Morrow said. For example, doctors might discover a liver disease of a certain type that we might not know before.

It is a wonderful platform for future discovery on genetic changes, he said. Its a huge task to figure out which variations are meaningful.

Morrow said people who are concerned about privacy, worried that their life insurance rates will rise or that theyll lose their job, shouldnt be. Since the autopsy is done on a relative, and the medical record is protected by federal privacy laws known as HIPAA, the information wouldnt appear on a relatives record anyway. In a way its the perfect vehicle for getting some information at almost no risk, he said.

Read more:
Autopsies at Yale New Haven Hospital find cause of death in genes - West Hartford News

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Genetic Testing Market : Future Innovation Strategies, Growth & Profit Analysis, Forecast by 2020 - Jewish Life News

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Top Market Vendors Analysed Are As Follows:

LuminexQuest DiagnosticsElitechPerkinElmerQiagenEKF DiagnosticsBiocartisMyriad GeneticsInterpace DiagnosticsElitechSeegeneWaferGen BiosystemsRoche DiagnosticsCepheidBioRad LaboratoriesBioMerieuxAbbott LaboratoriesIntegraGen

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Type 1Type 2Type 3Type 4Type 5

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Application 1Application 2Application 3Application 4Application 5

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Genetic Testing Devices Market Size ,Growth Opportunities & Regional Growth Forecast by Types, Applications - Jewish Life News