Archive for the ‘Genetic Testing’ Category

Among cardiologists, its known that transthyretin cardiac amyloidosis, a type of heart disease, is caused by the misfolding of a protein called transthyretin, which builds up in the walls of the heart, causing the muscle to get thicker and stiffer. One reason this can happen is because of a genetic mutation caused by the gene variant V142I, which is commonly found in people of West African descent. In a new study published Sunday in the Journal of the American Medical Association, researchers found that the 3%-4% of self-identified Black individuals carrying this variant had an increased risk for heart failure and death.

Heart failure affects African Americans at nearly twice the rate that it affects white people in the U.S. and the reason may in part be due to ancestry, not race. But even though the link between V142I and heart failure is well known, researchers did not know how the variant affects peoples risk of heart failure and its association with preserved heart function. Previously, researchers would study patients who already had the disease and came in for treatment. In this study, researchers from Brigham and Womens Hospital and Duke University School of Medicine looked at the natural history of the disease by drawing on data from four National Institutes of Health-funded studies in the U.S. Their findings suggest an opportunity to provide more genetic counseling and screening for African Americans.

Notably, these studies were not designed to look at amyloid heart disease specifically, but to obtain genotyping data in healthy women and individuals with various risk factors, such as stroke and atherosclerosis.

It would inform us and clinicians and patients regarding the likelihood that an individual at a given time in their life who has this genetic mutation might develop this disease. And the reason thats becoming more important is that there are now some therapies that are available for the first time, really only in the last few years, that are available for amyloid heart disease, said Scott Solomon, senior author of the paper and professor of medicine at Brigham and Womens Hospital and Harvard Medical School.

Using this large dataset, the researchers analyzed data from 23,338 self-reported Black individuals, out of whom 754, or a little over 3% of them, carried the V142I variant. They found that the genetic variant increased the risk for heart failure hospitalization by age 63 and the risk of death by age 72.

Thats earlier than we thought, said Senthil Selvaraj, the papers first author and an advanced heart failure physician-scientist at Duke University School of Medicine. Previously, researchers had thought that risk of hospitalization occurred in the 70s.

He added that they found that men and women also have a similar risk for disease, which suggests that women are fairly likely to be underdiagnosed with this form of amyloid heart disease. Women in general tend to have less thick walls, which means that even though amyloid heart disease thickens the walls, it could still be missed. The researchers also were unable to determine, among people who had the variant, whether they were hospitalized because of the condition or some other risk factor or combination of risk factors, such as high blood pressure or diabetes.

The researchers also looked at the burden this mutation has on a persons life span. On average, people who carry the variant live two to two and a half years less than a non-carrier. Approximately 13 million Black Americans are over the age of 50, and the researchers estimated that nearly half a million people over 50 are carriers of the variant. This means that the contemporary population of Black Americans will live about a million fewer years due to the variant, Selvaraj said. That might even be a conservative estimate, according to the editorial published with the study written by Clyde Yancy, professor and chief of cardiology at Northwestern University Feinberg School and Medicine and deputy editor for JAMA Cardiology.

Yet the implications for screening and genetic counseling are not obvious. While this variant is found in people with West African ancestry, the increased risk of heart failure and death does not only affect people who self-identify as Black.

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This kind of work is incredibly important, because we have to accept the evident truth that we as scientists understand: Race does not infer biology. Period. Hard stop. No modifiers, no adjectives. Race is a social variable, and relates to culturation, it relates to experiences, but does not infer biology. Period, Yancy told STAT. The color of your skin does not protect you from having this variant. He gave an example of a delightful white patient under his care who is currently being treated for amyloid heart disease and has the V1421 gene.

Selvaraj acknowledged that since the variant is found in people with West African ancestry, this is a global disease and people with various ethnic backgrounds may carry the variant as well.

Its impossible to know the worldwide burden of disease, but, in some ways, this is sort of the tip of the iceberg, Selvaraj said.

I think it was a well-done study, said Evan Kransdorf, an assistant professor of cardiology and a member of the cardiogenetics team at Cedars-Sinai in Los Angeles, who was not part of the study. Besides increasing screening, he said theres also an opportunity to pursue other areas of research. We would like to know how treatment would affect and modify the outcome, but obviously, that is a whole different study and can be difficult because in the last few years theres been a lot of rapid advancements in the field in the treatment of amyloidosis. One treatment is the drug tafamidis, which prevents the misfolding of the protein transthyretin. A gene-editing therapy is currently in clinical trials.

Yancy, who wrote one of the two editorials accompanying this study, saidits the presence of the V1421 gene itself that gives reason to heighten surveillance not because of race, but because of detectable genetic risk variables. Screening for the mutations should be made available for all people with a suitable disease phenotype, he argued in his editorial. This would be a similar practice to the race-agnostic screening for APOL1 in kidney disease.

We have to figure out, how do we get a reluctant patient cohort to agree to this kind of sophisticated genetic screening? First, that is counseling, and then the genetic testing, and how do we pay for it? he said. According to Yancys editorial, outside of commercial payers, patients on Medicare are only able to get cancer screenings, and Medicaid in most states does not cover genetic testing. It could be that these kinds of conversations will encourage CMS to revisit coverage decisions, wouldnt that be a really wonderful outcome? Yancy said.

In order to convince a reluctant patient, Kransdorf said that education is important. I say Hey, theres an 80% chance that Im not going to be giving you any useful information, but theres a 20% chance Im going to be giving you very useful information. Keeping that information in mind, a patient can decide on whether the odds are worth possibly confirming a genetic link to their disease.

As science moves toward race-agnostic research, Kransdorf believes that focusing on genetics will be a big component to developing individualized or precision medicine. Obviously, were not quite there yet, but I think maybe in five or 10 years, well be starting to get there. He added robust genetic testing should pave the way. Actual testing will be able to give us much more precise abilities to diagnose and potentially treat people. I think that we will be able to use genetic information to get past these kind of crude estimates.

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Study: People of West African ancestry at greater risk of cardiac amyloidosis - STAT

In the rapidly evolving landscape of healthcare, the expansion of genetic testing stands out as a monumental leap forward. The field of genetic testing has grown exponentially over the past decade, with available tests skyrocketing from 10,000 in 2012 to over 175,000 today a staggering 1650% increase with an estimated ten new tests introduced daily. And as the link between genetics and diseases is better understood, genetic testing is being applied across new specialties. While this diagnostics revolution holds immense potential to transform personalized medicine through early risk detection and personalized treatment plans, it also presents significant challenges particularly around payment accuracy.

Current challenges faced by health plans

While the use of genetic testing surges, health plans grapple with challenges influencing appropriate spending, administrative costs, and operational efficiency. Some key issues include:

As health plans struggle to keep pace with advancements in genetic testing, there is a pressing need for solutions to streamline processes, improve accuracy, and reduce administrative waste.

The power of strategic partnerships and specialized expertise

To address genetic testing claims complexity, as well as aligning payment with appropriate rules and reimbursement methodology, health plans are increasingly partnering with specialized companies with applied expertise in this domain. These collaborations aim to bridge the gap between clinical knowledge and administrative processes, enabling payers to better navigate the intricacies of payment accuracy related to genetic testing.

By leveraging the capabilities of specialized partners, health plans can access technologies such as AI-powered claims editing systems, which can identify and correct coding errors, detect potential fraud, and ensure compliance with evidence-based policies and guidelines. These solutions not only improve payment accuracy but also reduce the manual review burden on health plan staff.

Strategic partnerships also can help health plans stay ahead of the curve on policy development and provider education. Specialized companies often have dedicated clinical teams that continuously monitor the latest advancements and translate this knowledge into actionable insights. This includes developing policies around genetic testing administration and educating on test ordering and claim submission best practices.

Recommended solutions for health plans

To better manage genetic testing claims and improve overall outcomes, health plans should consider the following recommendations:

Collaboration, transparency, and innovation

The key to success lies in fostering a collaborative ecosystem that prioritizes transparency, education, and innovation. Health plans, partners, and providers must work together to ensure that the benefits of genetic testing are realized while maintaining payment integrity, which ultimately benefits patients by giving them a clear understanding of not only of their clinical situation, but their financial obligation.

This collaboration should focus on developing clear, evidence-based policies for coverage and reimbursement: Investing in solutions to automate claims processing and fraud detection, educating providers, and ensuring transparency among all stakeholders.

By embracing strategic partnerships and innovative solutions, health plans can manage the complexities of genetic testing claims while unlocking the immense potential of precision medicine to improve patient outcomes and drive healthcare transformation.

Photo by Flickr user Petra B. Fritz

Brian Berkowitz is the vice president of strategy & corporate development at Lyric, a health tech company dedicated to helping simplify the business of care. He leverages his deep, proven healthcare domain expertise and dynamic problem-solving skills to catalyze growth for the organization, which helps improve payment accuracy and integrity for eight of the nine top payers and many health plans covering more than 185 million individuals.

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Navigating the Complexities of Payment for Genetic Testing - MedCity News

ROCHESTER, N.Y. There is an effort to catch the attention of younger women about the importance of screening for cancer and to let them know that some women under the age of 40 may want to learn about genetic testing.

The whole purpose of doing genetic testing is not to scare people, its to arm them with information, said certified genetic counselor Jessica Salamone of Elizabeth Wende Breast Care.

Visitors there may receive multiple layers of screening including genetic testing.

The whole purpose of cancer screening and a risk assessment program like ours is to save lives, is to make diagnosis that arereallysort of minimal stage, said Salamone.

Breast cancer screening guidelines recently changed recommending women receive a mammogram at age 40 rather than 50 and every other year. The leaders at EWBC, leading radiologistsandother health experts say women as young as 25 years old should have a risk assessment.

So we identify that your family history of breast cancer may be indicative for the patient and then it may be indicative of other cancers that we need to be screening and testing for, said Salamone.

The risk assessment takes a look at all of the patients risk factors with a deep dive into family history.

Theres a percentage of cancer that can be traced back to a genetic mutation and so knowing your family history is key," Salamone said. "Paying attention and learning what happened to the men and women above you sort of in your pedigree in your family line isreallyimportant."

She says being at risk for one cancer could mean you are at risk for others.

In genetics, the fancy term is called variable expression," Salamone said. "The same gene can cause a variety of cancers. And so, somebody like me sits down, interviews my patient and looks through the generations of cancer.

It may be the last thing a 25-year-old is thinking about.

Young women may not know what guideline to follow," Salamone said. "Young women may not know exactly when to begin. They often rely on their physician to tell them."

EWBC is hosting a virtual seminar on Thursday at 6 p.m.in an effort toreach out to those younger women who should start thinking and talking about screening and testing potentially in their 20s and 30s.

I would encourage people who are nervous or a little scared to just come and have the conversation," Salamone said. "No ones going to say you have to do this. Anybody in my role is going to say, how can I align and partner with you to help avoid something thats been generational in your family and how can we help you live a long healthy life and be around for those future generations."

You can visitEWBC.comto learn more about the workshop.

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Catching and preventing cancer in younger women - Spectrum News

According to recent study by nova one advisor, the U.S. next generation sequencing market size was estimated at USD 4.10 billion in 2023 and is expected to be worth around USD 25.71 billion by 2033 with a CAGR of 20.15% from 2024 to 2033.

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The rise in the prevalence of chronic diseases like cancer and the necessity for early diagnosis are among the factors contributing to the expansion, along with technological advancements and the growing need for individualized therapy. The growing number of partnerships and joint ventures between industry participants, as well as increased investment, are anticipated to positively affect market expansion. For example, in September 2023, the clinical-stage biotech business Neuron23, based in the United States, teamed up with QIAGEN to develop an additional diagnostic tool for Neuron23's LRRK2 inhibitor, which is meant to treat Parkinson's disease. The assay utilized in this cooperation is incorporated into an NGS workflow, which leverages QIAGEN's Sample to Insight capabilities.

The U.S. government's sponsorship of numerous programs has contributed significantly to the growth of the NGS business. Funding for public health projects, such as genetic surveillance programs, is provided by the CDC. The American Rescue Plan set aside USD 1.7 billion in September 2022 to fund current and future genome surveillance initiatives. There is USD 90 million allotted to maintaining the Pathogen Genomics Centers of Excellence network for the next five years, out of the USD 400 million allotted for innovation. The use of NGS in public health laboratories is made possible by CDC funding, which improves these facilities' abilities to identify, characterize, and respond to pathogens.

Furthermore, a significant amount of funding for biomedical research, particularly initiatives pertaining to NGS and genomes, is provided by the NIH. NGS technologies are used by researchers and institutions that get NIH grants to investigate different diseases, comprehend genetic components, and create personalized medical strategies. This funding encourages innovation and technological improvement in the NGS sector by supporting basic research and translational projects. 2018 saw the launch of the NIH-funded Somatic Cell Genome Editing program, which aims to remove barriers to the clinical use of genome editing techniques for the treatment of various illnesses. The NIH Common Fund provides support for this project.

In addition, the rising incidence of cancer in the United States is anticipated to bolster the expansion of the NGS market. According to the American Cancer Society's projections, there would be 611,720 cancer-related fatalities and 2,001,140 new cancer cases in the United States by 2024. In oncology, NGS is widely used for tumor profiling, genetic mutation identification, and therapy response prediction. The development of targeted therapeutics and the molecular characterization of tumors are two key applications of cancer genomics that are propelling the NGS market.

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Key Takeaways:

Next Generation Sequencing Market Size in the global 2024 to 2033

The global next generation sequencing market in terms of revenue was estimated to be worth USD 9.19 billion in 2023 and is poised to reach USD 66.04 billion by 2033, growing at a CAGR of 21.8% from 2024 to 2033,North America dominated the NGS market with a share of 49.35% in 2023.

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What Are Next Generation Sequencing Used For?

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Segments Insights:

Technology Insights

The targeted sequencing and resequencing segment held the largest revenue share of 71.15% in 2023 and is expected to witness the fastest CAGR over the forecast period. Targeted sequencing and resequencing technologies are mainly adopted for clinical applications, such as cancer diagnostics, prenatal testing, and genetic disease screening. The ability to analyze specific genomic areas makes these technologies accurately and efficiently well-suited for clinical use, driving their widespread adoption in the healthcare industry. In addition, advances in targeted sequencing and resequencing technologies have led to increased sequencing throughput, allowing researchers to analyze larger numbers of samples simultaneously. This increased throughput enables more efficient study designs and accelerates the pace of research.

The whole genome sequencing (WGS) segment is anticipated to witness significant growth by 2033 due to the increasing adoption of precision medicine and personalized healthcare. With advancements in WGS technology, it has become possible to sequence an individual's entire genome, providing valuable insights into genetic variations and potential disease risks. This has led to the development of targeted therapies and personalized treatment plans, which can improve patient outcomes and reduce healthcare costs. Additionally, the decreasing costs of WGS and the increasing availability of sequencing services have made it more accessible to researchers and clinicians, further driving the growth of this segment.

Product Insights

The consumables segment accounted for the larger revenue share in 2023 and it is anticipated to grow at the fastest CAGR of 21.06% over the forecast period. The dominance can be attributed to the high demand for sequencing reagents, kits, and other consumables required for NGS procedures. As NGS technologies are more widely adopted in research and clinical settings, the demand for consumables is expected to continue to increase. In addition, advancements in sequencing technologies are resulting in new applications and workflows, which is further driving the demand for new and innovative consumables.

The platforms segment is expected to witness significant growth from 2024 to 2033, due to the increasing demand for better and more advanced sequencing platforms. Several companies are investing heavily in the development of new and innovative platforms that can provide faster and more accurate sequencing results. For instance, in April 2022, Thermo Fisher Scientific introduced the Ion Torrent Genexus Dx Integrated Sequencer. It is a CE-IVD marked and automated NGS platform designed to provide results within a single day. These trends are expected to continue in the coming years, driving further growth in the platform product segment.

Workflow Insights

In 2023, the sequencing segment held the largest market share of 57.63%. Sequencing workflow involves a comprehensive process of sequencing, which is critical for obtaining accurate and reliable results. It includes numerous steps, such as sample preparation, sequencing, and data analysis. The market for sequencing workflow is expected to grow further in the coming years as the demand for NGS-based research and clinical applications continues to increase.

The NGS data analysis segment is expected to grow at the highest CAGR over the forecast period, due to the increasing demand for efficient and accurate analysis of genomic data. With the growing adoption of NGS technology in various applications such as drug discovery, clinical diagnostics, and personalized medicine, the demand for NGS data analysis is expected to rise. Additionally, the availability of advanced software and tools for NGS data analysis is also contributing to the growth of this segment.

Application Insights

In 2023, the oncology segment held the largest market share of 26.69%, due to the increasing prevalence of cancer in the country. NGS technology has revolutionized cancer diagnosis and treatment by allowing for more accurate and comprehensive genomic analysis of tumors, leading to personalized and targeted therapies. Additionally, ongoing research and development in the field of oncology is driving the demand for NGS applications in this area.

The consumer genomics segment is expected to grow at the highest CAGR of 22.77% during the forecast period. There is a growing interest among consumers in learning about their genetic makeup, ancestry, and predisposition to certain health conditions. Direct-to-consumer (DTC) genetic testing companies offer affordable and convenient NGS-based DNA testing kits that provide consumers with insights into their genetic traits, ancestry, and potential health risks. This increasing consumer interest is expected to drive the demand for consumer genomics applications. Technological advancements in NGS have led to a significant reduction in the cost of sequencing, making it more accessible to consumers. As the cost of sequencing continues to decline and the efficiency of NGS platforms improves, consumer genomics companies can offer more comprehensive and affordable genetic testing services, further fueling market growth.

End-use Insights

In 2023, academic research held the largest market share of 50.59%. Academic institutions are at the forefront of genomic research and innovation. Researchers in academia are driven by interest and the purpose of knowledge, leading them to explore diverse areas of genomics using NGS technology. Their pioneering work drives the development of new sequencing methodologies, data analysis techniques, and applications, shaping the direction of the entire field. Government funding agencies, private foundations, and research grants often support academic research. These funding sources provide financial support for purchasing NGS equipment, reagents, and computational resources necessary for conducting genomic studies. The availability of funding enables academic researchers to invest in NGS technology and infrastructure, contributing to the growth of the market.

The clinical research segment is expected to grow at the highest CAGR of 22.85% from 2024 to 2033. Regulatory agencies such as the U.S. Food and Drug Administration (FDA) have approved several NGS-based tests and assays for clinical use, particularly in oncology and infectious diseases. The establishment of regulatory frameworks and guidelines for NGS-based diagnostics has increased confidence in the reliability and accuracy of genomic testing, facilitating the adoption of NGS technology in clinical research. As regulatory approvals for NGS-based tests continue to expand across different therapeutic areas, the demand for NGS in clinical research is expected to grow.

Recent Developments

Key U.S. Next Generation Sequencing Companies:

Segments Covered in the Report

This report forecasts revenue growth at country levels and provides an analysis of the latest industry trends in each of the sub-segments from 2021 to 2033. For this study, Nova one advisor, Inc. has segmented the U.S. Next Generation Sequencing market.

By Technology

By Product

By Application

By Workflow

By End-use

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U.S. Next Generation Sequencing Market Size to Worth USD 25.71 Bn by 2033 - BioSpace

Background

American Society of Breast Surgeons (ASBrS) consensus guidelines recommend genetic testing be available to all patients with a personal history of breast cancer, with the National Comprehensive Cancer Network allowing for multigene panel testing beyond the most common pathogenic variants of breast cancer. Genetic counseling is typically provided by breast surgeons or genetic counselors. However, there are no formal recommendations for the breadth of genes to be tested.

The ASBrS asserts genetic testing should occur in the context of informed consent. In this context, the breadth of genetic testing should be decided by the patient following pretest counseling.

Choice architecture posits that decisions are influenced by how choices are presented. Depending on the bias of the choice architect, be it surgeon or genetic counselor, there may be differences in the size of panels ordered for which there should be none.

Breast surgeons (n=4) and genetic counselors (n= 5) with more than 50 genetic test orders among the breast cancer population within a 7-hospital system were audited over a 3-year period (n=3912 tests). The median number of genes ordered was used to create order categories: less than median vs at least median. Chi-square analyses were used to compare the relationships between order category and clinician as well as order category and clinicians role.

Genetic Tests Ordered by Breast Surgeons and Genetic Counselors

The median number of genes tested was 48 (IQR, 32-85). There were significant differences in the proportion of orders above the median among the 4 breast surgeons (P<.001) as well as among the 5 genetic counselors (P<.001). In contrast, there was no difference in the proportion of orders above the median between the 2 clinician groups (P=.50).

These data lack propensity-matching of the breast cancer populations, yet there is significant anchoring in 5 of 9 clinicians, where greater than 90% of their panels are either greater or fewer than the median. This suggests a wide variation in the pretest counseling provided among both breast surgeons and genetic counselors. The differences in ordering panels indicates further research and guidelines may be warranted in this rapidly evolving component of the care of patients with breast cancer.

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63 Choice Architecture Bias in Genetic Counseling of Breast Cancer Patients - Cancer Network

Genetic Testing Market Overview

According to the report, the global genetic testing market was valued for$15.5 Billionin 2022 and is estimated to reach$40.9 Billionby 2032, exhibiting a CAGR of 10.2% from 2023 to 2032.

CAGR: 10.2% Current Market Size: USD 40.9 Billion Forecast Growing Region: APAC Largest Market: North America Projection Time: 2023- 2032 Base Year: 2023

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Genetic Testing Market Drivers

The increasing prevalence of genetic disorders like Down syndrome, sickle cell disease, phenylketonuria, and others, along with the rising adoption of genetic testing for cancer diagnosis, is expected to drive market growth. However, the high costs associated with genetic tests may impede market expansion. Conversely, the market is expected to witness growth due to the significant presence of manufacturers producing genetic testing devices and growing public awareness about the benefits of genetic testing during the forecast period.

The molecular testing segment to maintain its leadership status throughout the forecast period.

In 2022, the molecular testing segment dominated the global genetic testing market, capturing over half of the revenue, and is expected to remain at the forefront throughout the forecast period. This is primarily due to the widespread adoption of molecular testing for diagnosing genetic diseases. Conversely, the cytogenetic testing segment is forecasted to achieve a notable compound annual growth rate (CAGR) of 10.8% from 2023 to 2032.

North Americato maintain its dominance by 2032.

In 2022, North America led the global genetic testing market in revenue, capturing over two-fifths of the total revenue. This is attributed to the significant presence of genetic testing device manufacturers in the region and the increasing prevalence of chronic diseases such as cancer that require genetic testing.

However, the Asia-Pacific region is anticipated to experience the fastest compound annual growth rate (CAGR) of 10.9% from 2023 to 2032, likely becoming the dominant market during the forecast period. This growth can be attributed to the rising population affected by cancer and the growing awareness of genetic testing in the region.

Leading Market Players:

Recent Developments in the Genetic Testing Market

In November 2022, Myriad Genetics, Inc., a leader in genetic testing and precision medicine, announced that it has acquired Gateway Genomics, LLC, a personal genomics company and developer of consumer genetic tests including the No. 1 selling SneakPeek Early Gender DNA Test. SneakPeek reveals a babys gender at six weeks into pregnancy, the only at-home test to do so with 99% accuracy and the earliest method available.

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Genetic Testing Market to Generate USD 40.9 Billion by 2032, 10.2% (CAGR ) Annual Growth Predicted D - PharmiWeb.com

Ever wondered which breed your dog really is or how your cat's dental health is going? Wonder no more thanks to these great deals on pet DNA kits during the last day of Amazon Pet Day.

Best pet DNA kits at Amazon Pet Day

Best pet DNA kit for dogs

Best dog DNA kit for fast results

Best dog DNA kit for locating relatives

Knowing your dog or cat's genetic makeup might initially seem like just scratching a curiosity itch, but the knowledge they reveal can be useful. Genetic testing for your pets can give you insights into their behavior, common health issues of their specific breed, and introduce you to their relatives. If any of this piques your interest, Amazon Pet Day has some great deals on pet DNA kits for both cats and dogs.

Hurry to grab these deals because Amazon Pet Day ends tonight at 11:59 p.m. PT.

Here are the best pet DNA kit deals we've found so far:

The AncestryDNA dog breed identification kit is simple to use: collect a saliva sample, pack it up, and send it off. In about two to six weeks, you'll get detailed online results that give specifics about your dog's genetic makeup. Ancestry will list which breed (or breeds) are present in your dog with percentages of each. These details can help explain not only physical characteristics but personality traits and common behaviors, too.

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While swabbing your cat's gums and teeth might not sound like the best day ever, the results are worth the effort. The Basepaws cat DNA test comes back with results that'll indicate your cat's breed (or breeds), as well as common traits. Basepaws scans for over 21 breeds and 25 genetic traits.

Another benefit is the medical read-out that comes with the analysis. Basepaws screens for over 40 genetic diseases and gives you an oral health report. Both of these elements can help with early detection of potential future health issues and clue you in on the mouth health of your pet.

With a return time between two and four weeks, the Embark Breed & Health dog DNA test can be a great option if you're looking for fast results. Embark developed the test in partnership with Cornell University College of Veterinary Medicine to use research-grade genotyping. The test scans for relations to over 350 dog breeds and even includes dingoes, coyotes, and wolves.

The DNA test also looks at over 250 genetic health conditions to help you and your vet better care for your dog's needs. And if you have questions about the results, check in with one of Embark's vets or genetic experts.

Finding out a distant cousin lives in Paris can be a pretty exciting discovery. Finding your dog's sibling lives one town over is arguably even more exciting. The Wisdom Panel Breed Discovery dog DNA kit scans a large breed database and then allows you to see photos, compare genetic testing results, and even send messages (imagine the playdate possibilities). Wisdom Panel says the company has found relative matches for over 99.9% of the 3 million dogs they've tested.

The test also gives a clear breakdown of breeds present and tests for medical sensitivities, which can let you know if your dog is more likely to have a reaction to certain medications.

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Save up to $60 on a pet DNA kit during the final hours of Amazon Pet Day - Mashable

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Exome sequencing reveals genetic heterogeneity and clinically actionable findings in children with cerebral palsy - Nature.com

The history of primary myelofibrosis dates back to 1951 and the description of four distinct clinicopathologic entities that came to be known as myeloproliferative neoplasms (MPNs): chronic myeloid leukemia (CML), polycythemia vera, essential thrombocythemia, and myelofibrosis.

Discovery of the Philadelphia (Ph) chromosome in 1960 paved the way to identification of BCR/ABL as the principal genetic driver of CML. Another 45 years passed before the discovery of a first genetic driver of non-Ph MPNs, a mutation in the Janus kinase 2 (JAK2) gene, which occurs in 50-60% of myelofibrosis cases.

"The identification of that particular pathway was foundational, and it has changed the face of how we treat patients," said James Rossetti, DO, of the University of Pittsburgh. "The JAK2 mutation is not present in everyone with myelofibrosis, and there are other mutations as well."

A second key mutation in myelofibrosis, the myeloproliferative leukemia proto-oncogene (MPL, also known as thrombopoietin receptor), was identified in 2006. Subsequent studies have shown that the mutation occurs in 5-10% of cases.

Researchers identified a third key driver in 2013: calreticulin gene (CALR). The mutation is associated with about 25% of myelofibrosis cases.

Most studies have shown that JAK2, MPL, and CALR are mutually exclusive and do not occur together. However, a few studies have shown co-occurrence of the three key mutations. Even though JAK2, MPL, and CALR usually do not occur together, numerous other mutations have been identified in association with the three primary mutations. As many as 80% of patients with myelofibrosis have one or more other mutations.

Historically, myelofibrosis treatment was palliative in nature, aimed at relieving specific symptoms. The discovery of the JAK2 driver mutation has transformed treatment. Since 2011 four JAK2 inhibitors have received FDA approval: ruxolitinib (Jakafi), fedratinib (Inrebic), pacritinib (Vonjo), and momelotinib (Ojjaara). All four drugs demonstrated ability to reduce splenomegaly, a major clinical manifestation of myelofibrosis, as well as symptoms.

Some of the co-occurring mutations are targetable, creating interest in combination therapies that simultaneously target different signaling pathways, said Aaron Gerds, MD, of the Cleveland Clinic. One such combination was evaluated in a clinical trial that paired a JAK2 inhibitor with an IDH2 inhibitor.

"These were all patients that had very advanced disease, blast counts that were increasing and their disease was at or heading towards the point of an acute leukemia," he said. "We were able to -- with two pills, no IVs, no chemotherapy -- control the disease in these patients. A pretty remarkable event."

Such targeted combinations offer the potential to improve patients' lives, Gerds added.

Genetic testing has become standard for patients with myelofibrosis. Recognizing that mutations other than JAK2, MPL, and CALR might be present, clinicians will request a myeloid mutation panel that can identify a variety of mutations but also identify "triple negative" patients -- those who do not have JAK2, MPL, or CALR mutations. That subgroup accounts for about 10% of patients with myelofibrosis.

Triple-negative patients have a less favorable prognosis but receive the same type of clinical care as patients with mutations.

"Ruxolitinib, which is the only drug that so far has demonstrated an association with improved survival, as well as improved quality of life ... is used in all patients, regardless of the mutation underpinnings," said Gary Schiller, MD, of the University of California Los Angeles.

The four JAK2 inhibitors differ in their approach to disrupting JAK/STAT signaling. Genetic testing has yet to provide many clues to guide the selection of the different agents.

"The complicated molecular details probably don't inform us very much, except for the younger patient who's a potential recipient of allogeneic bone marrow transplant," said Schiller. "There the [genetic] mix might be important. But in terms of how you choose among the available therapies, right now, we often look at other factors, particularly the blood counts."

Mutation testing could play a role in developing new treatment strategies, particularly novel combination.

"BCL2 inhibition is one that is continuing to be explored, and PI3K inhibition is another," said Rossetti. "There are other pathways that we know are intimately linked to certain parts of the disease, and those studies are ongoing, usually with the backbone of JAK inhibition as sort of the gold standard for disease."

A number of mutations already have proven informative for prognosis. For example, SRSF2, ASXL1, and U2AF1-Q157 mutations predict shorter survival. RAS/CBL mutations predict resistance to ruxolitinib. Type 1-like CALR mutation is associated with better survival.

"We are certainly hopeful that in the future, mutations carry therapeutic information, and we've already seen a few examples of that," said Gerds. "If we see a JAK mutation, it helps us in the diagnosis, but if we see other mutations like ASXL1 or U2AF1, we know that those patients have disease that can be more aggressive over time. Thus, we're thinking more about curative therapies upfront, even allogeneic bone marrow transplant."

Charles Bankhead is senior editor for oncology and also covers urology, dermatology, and ophthalmology. He joined MedPage Today in 2007. Follow

Disclosures

Gerds disclosed relationships with AstraZeneca, E.R. Squibb & Sons, Celgene, MorphoSys, GSK, and Incyte.

Rossetti disclosed relationships with BeiGene, AstraZeneca, and CTI BioPharma.

Schiller disclosed relationships with CTI BioPharma, Sanofi-Aventis, Celgene, Agios, Novartis, Stemline Therapeutics, Jazz Pharmaceuticals, Karyopharm, Blueprint Medicine, and E.R. Squibb & Sons.

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Genetics and Genetic Testing to Inform Myelofibrosis Clinical Management - Medpage Today

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Cancer awareness: Screenings and genetic testing are key to health - Tennessean

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"Geographic diversity is incredibly important in Parkinson research. Tasso's device helps reach patients in remote areas where access to phlebotomists may be limited."

PD GENEration: Mapping the Future of Parkinsons Disease,an international genetics study led by the Parkinsons Foundation, tests for mutations among select, clinically relevant genes to accelerate research, advance treatments, and improve care for patients with Parkinson disease (PD). The goal of the study is to make genetic testing accessible to patients with PD, empower those with the disease and their clinicians to know their genetic status, and identify clinical trials in which they might enroll. PD GENEration returns genetic findings to all participants through a genetic counseling session, bridging the knowledge gap between patients and clinicians to accelerate research collectively.

In recent news, the foundation announced a partnership with Tasso that would leverage the companys patient-centric, end-to-end sample collection and logistics platform for PD GENEration.1 Patients in the study will receive a kit containing a Tasso device that will collect a small blood sample in the comfort and convenience of their home. Online proctors will help guide participants through the collection process and provide support for a successful collection. After collection, patients can ship their sample in a pre-paid box to a lab for research analysis. Overall, the goal of this research is to screen the collected samples for mutations among select, clinically relevant PD genes.

James Beck, PhD, senior vice president and chief scientific officer of the Parkinsons Foundation, and Ben Casavant, PhD, CEO and cofounder of Tasso, recently sat down with NeurologyLive in an interview to discuss how the blood collection device can simplify the process of collecting a sample of blood compared with traditional methods. The duo also talked about the role of genetic analysis in Parkinson research, and how Tasso is contributing to it. Additionally, Beck and Casavant talked about the importance of geographic diversity in the context of Parkinson research and patient access to testing.

Click here to learn more about PD GENEration.

Excerpt from:
Using a Blood Collection Device to Advance Genetic Research in Parkinson Disease: James Beck, PhD & Ben ... - Neurology Live

GREENFIELD It took nearly 35 years, but the human remains found just off Route 78 in Warwick in 1989 have been identified as belonging to Constance (Holminski) Bassignani, who was 65 years old at the time of her murder.

The Northwestern District Attorneys Office held a press conference Thursday morning to announce that the victims identity was learned about eight months after her DNA was submitted to Othram, a Texas corporation that specializes in using forensic genetic genealogy to resolve unsolved murders, disappearances and identification of unidentified decedents or homicide victims.

According to the DAs office, Bassignani was born in Hawaii in 1924 and was living with her second husband, William Bassignani, in Woonsocket, Rhode Island, at the time of her death. William reportedly told family that she had moved back to Hawaii, though the DAs office stated investigators found no evidence of this. William, who died in 1993, is considered a person of interest in the case.

The State Police Detective Unit attached to DAs office collaborated with the State Police Crime Laboratory to submit the genetic material to Othram. This led to living potential relatives, who submitted their own DNA and confirmed the victims identity.

Were all very appreciative of the dedication, the hard work and the perseverance in this case, Northwestern District Attorney David Sullivan said. Seeking justice for the unknown victim has been their driving force from Day 1.

Bassignanis body was found on June 24, 1989, by a passing motorist. Her remains were found 10 to 20 feet off the roadway of Route 78, in a lightly wooded area near a small gravel pit about 1 miles south of the New Hampshire state line and about the same distance north of the entrance to Mount Grace State Forest. Sullivan said local and State Police responded to the scene, documenting evidence and collecting the remains.

First Assistant District Attorney Steven Gagne explained that identifying the victim is the first step in any homicide investigation.

From there, investigators can determine who the victims circle of family, friends and co-workers were and attempt to retrace their last known steps and contacts, he said. In this case, investigators were hampered from the start in their efforts to solve this homicide without an identification of the victim.

Article continues after...

Gagne said investigators have learned Bassignani got married and divorced in the 1940s before marrying William in 1945. Authorities have tracked down and spoken with the three grandchildren born to a son that has died, as well as a daughter who lives on the West Coast. Gagne said the DAs office was assisted by law enforcement in Washington state and in Hawaii.

So this investigation, which is now reinvigorated, has literally spanned half the globe, he said.

Gagne explained Bassignani and her husband lived in an apartment in Woonsocket, Rhode Island, approximately 80 miles from Warwick. The couple had previously lived in Franklin, Massachusetts. Sullivan said there is no known connection between the couple and Warwick, and it is unknown where the murder took place.

According to the DAs office, the victim was last seen alive on Memorial Day weekend in 1989. Gagne said William reportedly told relatives that his wife had decided to move back to Hawaii and that they would not be seeing or hearing from her again.

Gagne said he hopes this news provides some closure to the victims family, shedding some light on what may have been a looming cloud of doubt surrounding her disappearance for decades.

Retired Warwick Police Chief Brian Peters, who was at the departments helm in 1989, said it is refreshing to get some answers.

Its a big relief, he said. [We] never had anything like this happen in town, and hopefully never will [again].

Paul Marguet, the State Polices lead investigator on this case, said the victims grandchildren initially did not believe authorities, having long believed their grandfathers story about his wifes abrupt disappearance. But, he said, their DNA was used to confirm the truth.

Michael Vogen, an Othram representative, appeared via Zoom during Thursdays press conference and lauded the DAs office and the State Police before briefly speaking about his companys mission.

We were purpose-built to do just this, he said. Thats to generate human ID from forensic evidence.

Gagne previously told the Greenfield Recorder the decision was made to reach out to Othram due to the companys success in identifying the so-called Granby Girl as Patricia Ann Tucker, a 28-year-old woman found shot to death in 1978, but who went unidentified until a little over a year ago. Gerald Coleman, Tuckers husband when she died, is a person of interest in that murder. He died in state prison in 1996, and prosecutors say he never reported his wife as missing.

Othram also helped identify the Lady of the Dunes a 37-year-old woman found murdered in Provincetown on July 26, 1974 as Ruth Marie Terry. Her now-deceased husband, Guy Muldavin, was officially named as the killer in August 2023.

David Mittelman, founder and CEO of Othram, previously told the Recorder that his company tests DNA based on hundreds of thousands of markers, whereas the FBIs Combined DNA Index System (CODIS) uses 20. He also said victims are often not in CODIS because it was designed about 30 years ago to track the repeat offenses of known criminals. But Othram, which employs 60 people, can work from evidence generally considered unusable because it is too old or too degraded.

Gagne mentioned authorities hope to bring renewed attention to the Warwick case and trigger some new leads that have a domino effect that ends with additional answers. Anyone with information that might be helpful in this case is encouraged to call the State Police Detective Unit attached to the Northwestern District Attorneys Office at 413-512-5361. Messages can also be submitted anonymously through northwesternda.org.

Its like were trying to piece together an ancient puzzle here, Gagne told reporters, but any small piece would certainly help.

Reach Domenic Poli at: dpoli@recorder.com or 413-930-4120.

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1989 homicide victim found in Warwick ID'd through genetic testing, but some mysteries remain - The Recorder

A high-risk cancer genetics program at Erlanger is helping improve cancer treatment and screenings for patients in our community.

Actress Olivia Munn says a breast cancer risk assessment helped save her life. She announced last year that she had been diagnosed with Luminal B Cancer, which is an aggressive, fast-moving cancer.

A similar program is available at Erlanger.

McKenzie Smartt, Erlanger, NP-C says, Our cancer genetics program we can do genetic testing to test your DNA to see if you have any hereditary conditions that were passed down from your family that could possibly increase your risk for cancer.

Smartt says patients can also enroll in their high-risk program.

McKenzie Smartt says, Where if you do not have anything genetic you can still have an increased risk for cancer based off family history. So, we can manage the increased risk as well.

Smartt says everyones risk is different. While this program is for everyone, it is geared toward women.

McKenzie Smartt says Specifically, women over the age of 25. The guidelines now suggest women over 25 should have a risk assessment.

A lot of that has to do with the fact that 1 in 8 women will be diagnosed with breast cancer in their lifetime.

Smartt says they also are concerned about other cancers like colon cancer and prostate cancer.

McKenzie Smartt says We want to be proactive in the community and be able to identify those who are at risk, catch cancer early so we can begin treatment as quickly as possible.

For more details, click here.

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EYE ON HEALTH: High risk and genetic testing being offered at local hospital - Local 3 News

WASHINGTON, May 2, 2024 /PRNewswire/ -- One of the biggest scams targeting Medicare beneficiaries in the last decade has been the genetic testing scam. Recently, the Senior Medicare Patrol (SMP) has seen an increase in genetic testing complaints. Across the nation, genetic testing company representatives are offering "free" genetic tests, also referred to as DNA screenings, cancer screenings, and hereditary testing, in exchange for the beneficiaries' Medicare numbers.

Beneficiaries are getting calls about genetic tests claiming that the results will help them avoid or detect diseases like cancer or Alzheimer's. The SMP has also received reports of genetic testing claims on Medicare statements when the beneficiaries never received any contact about genetic testing. It is incredibly important to review your Medicare statements and report these claims.

The genetic testing scam can be dangerous. "Scammers can steal people's medical identity and falsely bill Medicare (around $10,000 a claim), draining the Medicare program. Additionally, tests ordered under these circumstances could lead to confusion and inaccurate medical records," said Nicole Liebau, SMP Resource Center director.

The SMP recommends that Medicare beneficiaries:

The Senior Medicare Patrol (SMP) is ready to provide you with the information you need to PROTECT yourself from Medicare fraud, errors, and abuse; DETECT potential fraud, errors, and abuse; and REPORT your concerns. SMPs help educate and empower Medicare beneficiaries in the fight against health care fraud. Your SMP can help you with your questions, concerns, or complaints about potential fraud and abuse issues. It also provides information and educational presentations. To locate the local Senior Medicare Patrol, contact 1-877-808-2468 or go to http://www.smpresource.org.

SMP Resource Center Nicole Liebau 319-284-0702 [emailprotected]

SOURCE SMP Resource Center

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Double Helix Deception: The Return of Genetic Testing Scams in Medicare Fraud - PR Newswire

Finally, the moment arrived for my BRCA test a simple blood draw, almost anticlimactic for something that had the potential to be life-altering and life-saving. But how did I get here?

This moment had been something Id been building up in my head since 2017 when I saw The Bold Type and Jane Sloans personal journey as she navigated her mothers battle with breast cancer and her own subsequent decision to undergo genetic testing to look for BRCA genes. Now, here I was at my very own appointment in 2024. Sure, maybe it took me seven years but I was finally confronting, and struggling to manage, the overwhelming mix of anxiety, fear, grief, and empowerment I felt (but at least my therapist is fantastic). I was facing my own mortality squarely in the face and saying bring it.

So here I was, at a large hospital, as ready as I could be for my hour-long session where my family tree, personal history, and risks would be reviewed and evaluated. I was immediately struck by the warmth and empathy of my genetic counselor, whose name was Emily. She was kind and welcoming to both me and my partner, and never said any of the awkward veiled homophobia I usually hear in medical offices like is this your friend or worse, is this your sister. She was able to delicately balance the clinical aspects of genetics with the emotional weight of familial cancer history.

Most of my known family history and risk is on one half of my family, and the cancers that show up in my family tree can all be linked genetically. The counselor took all of this anecdotal information and plugged it into a mathematical formula. She calculated the risk that I would have a genetic mutation that is known to cause cancer. Even with only one half of my family history known to me, Emily confirmed my risk level was considered high enough to make me a strong candidate for testing.

It was strange hearing that out loud. I had already done my own research and knew that was likely to be the outcome, but having an expert confirm that I had a high risk level was both scary and exciting. I wanted to get the test, even if doing so seemed like asking a psychic when I was going to die.

Emily gave me information regarding my insurance coverage and financial support available through the genetic testing lab itself (not the hospital where I was doing the testing, but the organization that would actually analyze my genes). Fortunately, because of fairly recent health laws that require insurance to cover BRCA testing for high risk patients, my insurance would cover the test based on the fact that I was confirmed to be a good candidate.

Next it was time to consider how extensive I wanted the test to be, which required thinking about some of the most complex parts of the entire process: mastectomy, hormone therapy, hysterectomy, and more.

The genetic counselor was again fantastic and made sure that I didnt boil over like an out-of-control pot of water. She told me that the recommendations for medical intervention can vary based on the specific gene combination that is found. For example, a mastectomy might be a recommendation for a really high risk gene profile, but monitoring and hormone treatment might be the recommendation for a more moderate risk gene profile.

The question of whether or not to get a hysterectomy or mastectomy or even do hormone therapy is inextricably tied to notions of gender and what that means, personally and societally. I was first introduced to those conversations ten years ago, when Angelina Jolie revealed that she had gotten a mastectomy because of her own BRCA mutation. At the time it terrified me. It sounded like such an intense surgery and it was impossible for me, at the time, to separate breasts from femininity. The media confirmed this with countless op-eds at the time arguing whether or not Angelina Jolie was still a woman.

Of course, I no longer believe that breasts are necessary to be a woman. Trans women are women, even if they dont take hormones or get top surgery.I could still be a woman after a mastectomy. Tig Notaro, who I adore, went on stage shirtless r in her comedy special Boyish Girl Interrupted after a mastectomy because of breast cancer, and she identifies as a woman and a lesbian. Id also spent time as the primary caretaker for someone recovering from top surgery and had first hand knowledge about the bandages, drains, scars, and all of the details in between. Top surgery and a mastectomy arent exactly the same, but the surgeries have a lot in common, and my queer experience gave me a unique perspective to bear witness to the ways in which breast removal could be a joyful experience and not solely something done out of the fear and pain that comes with cancer. It helped me understand the surgery from a practical perspective, rather than the fear and tragedy that often accompanies a mastectomy in the case of cancer.

Hysterectomy and hormones are a little harder to comprehend, because they are not as visible and public. I also have endometriosis and the lesser-known adenomyosis, both of which mean that the lining of the uterus grows where they are not supposed to, meaning it is wildly painful and extraordinarily torturous to have a period. For me, a hysterectomy would address these conditions as well, making it feel easier to consider such a big surgery. Pair all of this with the BRCA statistics: A BRCA mutation can cause up to a 72% lifetime risk of developing cancer and a 44% lifetime risk of developing ovarian cancer. For those with BRCA who do develop cancer, it is much more likely to be aggressive and more likely to be deadly. I had already decided if I had high genetic risk, I wanted to take an aggressive approach to fighting and preventing it.

In fact, my coming to this specific hospital was the result of a lot of research to confirm that things like hysterectomy would be an option. Navigating the healthcare system as a disabled LGBTQ individual in a post-Roe and post-Trump America is far from straightforward, and I knew that it was possible that religious hospitals and state laws could affect what treatment options are available to me. Having received affirming care at One Medical, known for its LGBTQ+-friendly environment and inclusive practices, I was taken aback when I was first referred to Providence hospitals. Despite Providences outward portrayal of inclusivity, deeper research revealed instances of discriminatory practices, such as denying transgender individuals necessary medical procedures or restricting access to birth control and abortion based on religious doctrine. Choosing a hospital system became a key part of my process and I had to do extra work to ensure comprehensive gynecologic care options and avoid discriminatory practices. I didnt want to risk being denied all of the possible treatment options.

Now, sitting with Emily, I felt confident that I made the right decision. I wouldnt have to worry about artificial restrictions on my healthcare. Instead I could just consider the range of genetic test options knowing that even if the test revealed a high genetic cancer risk, this hospital had a team who would give me all of the options.

Finally, it was time to decide how many genes I actually wanted to have tested. They could perform a targeted test focusing on specific cancer-linked mutations or a comprehensive panel. Emily noted that one reason to choose more targeted testing was because going with the full panel increased the odds of finding an unknown genetic mutation and that this could cause anxiety. Scientific understanding of genes and cancer is still evolving, and some genetic variations have been identified, but not studied enough to conclusively say whether or not they increase the risk for cancer. However, she assured me that the testing company would provide ongoing updates, ensuring I remained informed as the science developed. I decided to go with the full, comprehensive panel of eighty eight genes, choosing to confront the unknown with as much data as possible. Id prefer to have all available information that science could offer me.

(Plus, the cost for the test would be the same whether I tested all eighty eight genes or a much smaller number, and I love a good bargain. Eighty-eight genes for the price of two, yes please!)

It feels like after all of the build up the actual genetic test should take place around a campfire with chanting and handholding, but the reality was anticlimactic and impersonal. If anything, the test itself felt really awkward. The nurse struggled to take my blood even though I am usually told by medical professionals that I have good veins. It felt like some part of my body was determined to express the anxiety I still felt by physically fighting back against the test. Finally after several minutes of poking at me the blood began to flow, they collected two small tubes, packaged it in a box to send to the lab, and I was finished.

As I left the appointment, I carried a sense of relief tinged with apprehension, knowing that the next few weeks would surely make my anxiety boil over.

But what convinced me to do the test in the first place remains true: if I have the genetic mutations that increase my risk for multiple types of cancer, especially breast cancer, theyre already there whether or not I get the test.

Now, as I await the verdict of eighty-eight potential cancer-causing genes, I am buoyed by the legacy of LGBTQ+ people who came before and whose courage and honesty helped bring awareness, empathy, and less stigmatization to breast cancer and the gender-based shame that can come with it. There is Wanda Sykes, who opted for a double mastectomy after finding what she called stage 0 cancer because she wanted to reduce her chance of it spreading as much as possible. Melissa Etheridge, who destigmatized the connection between breast cancer and femininity by performing bald at the GRAMMY Awards shortly after completing chemotherapy. Robin Roberts and her partner Amber Laig,n who both have had breast cancer and shared their experiences via Robins platform as a host on Good Morning America. Angelina Jolie, and her pivotal role in bringing BRCA genes and treatment options into the national spotlight. Audre Lorde, who published The Cancer Journals and detailed her own struggles with and views of post-cancer femininity.

I also still think of Tig Notaro, who in the middle of a stand-up comedy special being recorded for broadcast boldly unbuttoned her shirt, revealing her post-mastectomy chest. She did the remaining half of her stand-up set like this, forcing viewers to confront their own discomfort with cancer, mortality, gender, and health all in one subtle but significant move.

Tig stands on a stage for 20 minutes, literally in a spotlight and on camera, shamelessly showing her nipple-less, slightly concave chest with obvious red surgery scars. The first time I watched it I felt uncomfortable, being forced to face medical and gender stigmas at the same time while feeling amazed at Tigs boldness. It felt like I was watching something public that was supposed to be kept hidden and private and it was inspiring to see that see the mystery, and with it the stigma, stripped away. Its what I aim to do with this series in some small, similar way. I think perhaps if the worst case scenario for my health and my gender presentation is that I have something in common with Tig Notaro then maybe thats not so bad.

What to Expect Whenis a series from Katie Reilly shedding light on cancer and the intersection of genetics, identity, and health.

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What to Expect While Awaiting the Results of a Life Changing Test - http://www.autostraddle.com

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Adam Christman, DVM, MBA: We talk a lot now about spectrum of care. What happens to the dog parents, unfortunately, who cannot afford the price of DNA testing? We really want to recommend it, but they just dont have the funds. What are your thoughts on that?

Jenna Dockweiler, MS, DVM, DACT, CCRT, CVAT: DNA testing is fairly cost effective and it will only become more so in the future. A dog's DNA is the same from the day it's born to the last day of that pet's life. So really at any point along that journey, it is appropriate to DNA test. Potentially in the future, as costs come down with just the testing technology itself, it will likely become more accessible for those folks.

Adam Christman, DVM, MBA: What about the practice that says, "We don't have the time for this?

Lindsey Kock, DVM: I think it's one of those things that taking the time to do that DNA test enables you to have more time later. By taking the time to do that test, you no longer have a full laundry list of things to cover at that puppy exam, but you have a few individual talking points.

We talked about compliance, but if you have the genetic testing to back up the recommendations, you're spending less time teaching and helping the pet parent to understand those things that come up. Something that really is a pretty quick, minimally invasive test, the results can be a lot, but Embarks done a great job of whittling down those results. You take that and you save yourself time in the long run. So it's a little effort for, I think, a huge increased efficiency and increased payoff in the long run.

Adam Christman, DVM, MBA: Okay, are there specific dog breeds that, I don't want to say they have predispositions, but need DNA testing more than other dog breeds out there?

Jenna Dockweiler, MS, DVM, DACT, CCRT, CVAT: We all know there are certain breeds predisposed to certain genetic conditions. I think that's a known truth at this point in veterinary medicine, but certainly testing is appropriate for every dog at every age. Even conditions that we see or think of as particularly breed-associated may not be as breed-associated as we thought, which the urate stones would be a great example of something like that.

And the dog's DNA is going to be the same from when it's born to the last day of that pet's life. So you can test it anytime during that spectrum. And some of these diseases won't manifest until later in life.

Adam Christman, DVM, MBA: I want to talk a little bit about taking away some of the financial issues or burdens that can happen. I find, personally, when you DNA test these dogs and puppies that are coming in, that the clients are more likely to say, oh, let me get pet insurance, just to help take away some of that financial stress that can happen down the road. Have you experienced that in your neck of the woods?

Lindsey Kock, DVM: Yeah, it'll be interesting to see how genetic results have an impact on health insurance. I think today, genetic results are really giving us more insight into potential issues down the road, right? And I think a lot of insurance coverage to my knowledge is based on actual diagnosed conditions that we're seeing clinical signs for, but using some caution too in that and potentially getting the insurance on board first and then doing the genetic test may not be a bad idea.

But I think too, aside from insurance, just being able to be financially prepared for decisions that you may have to make down the road, right? So we talked about intervertebral disc disease (IVDD) with those at an increased risk. Dogs who have at least one of those mutations tend to be at like 45 fold more increased risk of having an episode, but also out of five to 15 increased risk for needing surgery, right? So being able to prepare early for that financial burden and being able to be prepared for that decision, whether you're saving up or you have insurance is really important.

Adam Christman, DVM, MBA: I know we chatted a few years ago about this and I'll share the story with all of you out here because some of you, probably all of you, know I'm a huge dashchund fan. I did want to do the DNA testing for Clark W. Griswald and Lindsay was the one to say you really should, just so that way you know if there's the marker. Well, lo and behold, he did, and this past summer he did have inner vertebral disc disease. He did fantastic, but I expected it. I had pet insurance for him. Granted, I'm his veterinarian, but I can't do the surgery, but it made me so much more aware as a dog dad, knowing like, okay, I know what's gonna happen as much as I had dog ramps, and anything that you try to do. I didn't have that huge panic feeling especially with IVDD when the dogs go down.

Lindsey Kock, DVM: It is hard. Yes, like I don't care who you are. Getting a dog to keep quiet is hard.

Adam Christman, DVM, MBA: I remember talking to clients in the exam room about this with IVDD just because it could be so scary to see your dog walking all of a sudden just go down. But I tell them to be prepared, just like you were talking about, just to know what to expect in case. And I have noticed in my experience that these clients, they're more responsible with the decision-making. Yes, they're emotional, but not nearly as emotional because we already had that discussion. Have you heard that too exactly?

Jenna Dockweiler, MS, DVM, DACT, CCRT, CVAT: Exactly. It's a more proactive discussion, like we were talking about earlier, rather than reactive. So you can tell this client, hey, this is what you're gonna look out for. Maybe they're gonna be wobbly in their hind end, have some back pain, or maybe, go all the way down. They're not panicked about what could this be. It's already, I have a good idea of what this might be and I know I need to seek veterinary attention.

Adam Christman, DVM, MBA: Yes, absolutely.

Excerpt from:
Being prepared for the future - DVM 360

(Scott Sommerdorf | The Salt Lake Tribune) Researchers walk in one of the huge research labs at the Huntsman Cancer Institute, Wednesday, August 26, 2015.

By Josh Bonkowsky | For The Salt Lake Tribune

| April 10, 2024, 12:05 p.m.

Why should we get the test?

Cassies mother was not convinced that we should test her daughter for genetic mutations that could cause epilepsy. In class at school, Cassie (whose name Ive changed for privacy) had a generalized tonic-clonic seizure that lasted for 20 minutes. The next week, she started to have smaller seizures several times a day.

I am a pediatric neurologist, and every year we see more than 1,500 children with new epilepsy in our clinics and in our hospital. For Cassie, the important steps to understand and treat her epilepsy were to order an electroencephalogram or an EEG; to get a brain MRI scan and to test for genetic mutations. We started Cassie on lamotrigine, a very effective and safe anti-seizure medicine.

These decisions about how to take care of Cassie result from cumulative learning and the passing on of information from one generation to the next. Sometimes the chain of knowledge gets lost.

Our current knowledge about epilepsy diagnosis and care; and the field of medicine in general; are guided by the scientific method, one of the great triumphs of the Enlightenment, an 18th century intellectual movement that emphasized reason over superstition. The scientific method holds that we can learn facts and make hypotheses about ourselves and our world; and critically, that the hypotheses are testable.

Our newest tool for epilepsy is genetic testing. Several months after her first seizure, we did genetic testing for Cassie and found that she had a mutation in the SCN1A gene. The SCN1A gene works in the neurons of the brain to maintain a normal electrical balance. It turns out that lamotrigine is not a good choice for people who have SCN1A mutations and can worsen seizures over time. We stopped the lamotrigine and started a different medicine (clobazam). The genetic testing was critical for Cassies treatment.

This power to understand and treat diseases like epilepsy is a triumph of our biomedical enterprise; which is an accomplishment of our society, guided by the values of the Enlightenment.

These values are under threat from both commercialism and sciolism.

Commercialism or the belief that financial profit is valued above all else is corrupting our societys ability to provide equitable care. When I meet with families in my clinic, I have to ask what their insurance is, because I know that, for some, it will be difficult or impossible for them to afford the genetic testing or afford the best medicine.

Sciolism or the arrogance of absolute certainty leads to being convinced of something in the absence of actual knowledge. For example: Some of the families I work with are afraid to start an anti-seizure medicine for their child, or to get genetic testing, after reading about risks or misinformation on the internet. Anti-seizure medicines work very well and, as in Cassies case, genetic testing is important. It is a much bigger risk to a child, by a considerable amount, to not be treated or tested. There are, of course, definite limits of knowledge, and the potential for problems even if very rare. But the reality is that physicians and scientists provide true expertise that can prevent disease and save lives.

What we need is a re-Enlightenment.

The re-Enlightenment should incorporate dedication to the scientific method and valuing of the universal rights of a person, aspects missing from the original Enlightenment. People from disadvantaged and overlooked groups must be part of the discourse; and the importance of the spiritual can not be discounted. Policy decisions need to incorporate true equality of opportunity including housing, health care and financial stability for all persons, whether they are a university professor, a school teacher or a janitor.

The accomplishments of the Enlightenment are real, and we can take those best approaches and best values in a re-Enlightenment. We need a shared commitment that agrees upon rationality and a scientific approach for taking care of our children; that values our humanity and all of its members. The stakes are too high and too important to not take this on.

(Photo courtesy of Josh Bonkowsky) Josh Bonkowsky

Josh Bonkowsky, MD, PhD, is a professor of pediatrics at the University of Utah and director of the Center for Personalized Medicine at Primary Childrens Hospital. The views expressed here are his own and do not necessarily reflect those of his employer.

The Salt Lake Tribune is committed to creating a space where Utahns can share ideas, perspectives and solutions that move our state forward. We rely on your insight to do this. Find out how to share your opinion here, and email us at voices@sltrib.com.

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Opinion: Misinformation and profits keep doctors like me from offering Utahns the best care - Salt Lake Tribune

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Adam Christman, DVM, MBA: Once we have the Embark DNA testing going on, what does that look like from a CSR perspective, a technician, and a generalist?

Jenna Dockweiler, MS DVM, DACT, CCRT, CVAT: Absolutely, so we have a couple of different options with our Embark clinic testing. So the first option is you can carry the tests in clinic. You can buy them in bulk packs, do the swab right there in the exam room, and send it off. The results will go back to the veterinarian first so they have a chance to review those results and then those can be released to the client. That's option one.

Option two, for folks who maybe don't have a lot of inventory space, would be our recommend and review program. Essentially, the client orders through our website through a special QR code. They get a little bit of a discount on their test purchase and then once that results comes back, they go to the veterinarian and the client at the same time. The veterinarian's experience as far as the very detailed reporting and the support with me is not different, but the client will get the result at the same time. So just two different options for the testing.

As far as how we've seen this work best in clinics is it is very, very, very helpful to assign a genetics champion to be the one to have that initial conversation about the benefits of genetic testing with your clients. And typically that is a technician or another interested staff member. Embark will absolutely support training that person. We offer lunch and learns to get all the clinic staff kind of up to speed on what the testing looks like, how to have those initial conversations.

Adam Christman, DVM, MBA: I wanna talk about our educational school and that school with genetics. I'm curious to get your thoughts on where we should be going in the next five to 10 years with genetic counseling and understanding for the new graduates that are coming out of school.

Jenna Dockweiler, MS DVM, DACT, CCRT, CVAT: Typically we don't get much genetics education in either vet or tech schools. So typically whenever I speak, I always tell people, hey, you're gonna be reaching back to your high school biology. We're gonna be talking about Mendel's peas today. So I think that there is definitely an opportunity. I would say just doing like a brief review of the modes of inheritance, which is the way that a variant is passed on to the next generation, would be really, really helpful if we had that kind of again in vet school. Then, using some examples with either breeding dogs and how to smartly pair them, or with personalized medicine and individual dogs who may be at risk for genetic diseases.

Adam Christman, DVM, MBA: I think the new graduates know about this. They're excited about it, but I think they're just learning so much through mentorship and trying to get their communication under control. But I do think that this is a great opportunity for a mentorship opportunity for hospitals to teach the new grads. This is what we should do moving forward, right?

Lindsey Kock, DVM: Yeah, absolutely. I think one thing to maybe be cautious of not getting too bogged down in is, there's over 350 some odd different variants that we know of in the world of dogs. So I think if you come at it from the perspective of like, "Oh my gosh, I got to know all of the details about all of these disorders, there's a new one coming out every week, right, that may only affect a certain subpopulation or a certain breed of dog.

And so I think the recommendation to really focus on inheritance, is huge because it helps you interpret the results for the pet parent. And then making sure that when you do testing, you do it from a reputable lab that lets you know what the inheritance is as well, right? And it tells you what actual marker they're looking at, because that is also important in the interpretation of those results.

Adam Christman, DVM, MBA: The fact that you can talk to somebody at Embark to go over these results, I was just going to mention that. Because I know that you feel inundated if you get these results, but it's almost as if going through a ClinPath case when you're calling your reference lab, you want to walk through some of the differentials. So it's important. I'm sure you must get quite a few phone calls with that.

Jenna Dockweiler, MS DVM, DACT, CCRT, CVAT: Absolutely. I talk to veterinarians all day long helping them interpret their results and then again as a theriogenologist, I'm definitely able to help with the breeder clients as well.

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Behind the science - DVM 360

Chinas genetic testing market is growing quickly, as are the claims being made by companies operating in the industry.

While vendors tout the technologys ability to save lives and help us understand risk, experts say that greater regulation is needed to protect the public.

Before 2014, Chinas genetic testing services were unregulated. That year, related laws and regulations were introduced and the sector was included in the 13th Five-Year Plan.

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Weekend Long Read: Debunking the Genetic Testing Hype - Caixin Global

SAN DIEGO, April 3, 2024 /PRNewswire/ -- Leading commercial organizations and patient advocacy groups in the field of cancer genetics today announced the founding of the Inter-Organization Cancer Genetics Clinical Evidence Coalition (INTERACT), a coalition whose mission is to increase evidence-based access to genetic testing for people with or at risk of hereditary cancers.

Founding laboratory members include organizer Ambry Genetics, a subsidiary of REALM IDx, Illumina, Myriad Genetics, and Quest Diagnostics. Volpara Health has also recently joined the coalition. Founding patient advocacy organization members include AliveAndKickn and FORCE. The coalition seeks to provide a collective voice in support of the progression of medical professional and industry guidelines for genetic testing for inherited mutations that increase cancer risk.

With growing insight into the role of genetic testing in cancer risk management and treatment, the population of individuals who benefit from knowing their genetic mutation status continues to increase. As leaders in the genetic testing and hereditary cancer field, the founding members believe it is their responsibility to help drive awareness and inform changes that will equalize access for those whose outcomes could benefit most from testing.

One of the primary objectives of INTERACT is to ensure policy and guidelines keep pace with the growing body of evidence surrounding inherited cancer risk.

Hereditary cancer genetic testing has been shown to improve outcomes by identifying those most at risk and informing management strategies. For instance, patients who test positive for a BRCA1 or BRCA2 mutation have up to 87% lifetime risk for breast cancer, and up to 40% lifetime risk for ovarian cancer.1,2 In addition, there are numerous other genes that increase risk for various forms of cancer. Armed with this information, patients and physicians can improve management through increased surveillance, chemoprevention, targeted therapeutics or risk-reducing surgical measures. As an example, studies have shown that prophylactic mastectomy in BRCA1/2 mutation carriers results in up to a 97% reduction in the risk for contralateral breast cancer, while salpingo-oophorectomy reduced ovarian cancer incidence by 69-100%.1,2

Despite the benefits of a patient and their provider knowing mutation status, disparities in access and uptake of cancer genetics services are well documented.3 INTERACT intends to improve access to genetic testing, with the goal of reaching vulnerable populations who may not currently be aware of their risk or their need for increased screening or other interventions.

"With Lynch syndrome, one of the most common hereditary cancer syndromes, patients have up to 80% lifetime risk for colorectal cancer4, but an estimated 95% of at-risk individuals have not been identified5," said Robin Dubin, Executive Director of AliveAndKickn. "To really improve survival rates with informed screening strategies, we need to help drive education and policies that support genetic testing for all those at risk."

Among the challenges to broadening access to genetic testing for hereditary cancer risk is a time lag in updating guidelines and medical policies after the publication of new medical literature. INTERACT will work to bring these differences to the attention of guideline committees and medical professional societies in an effort to bridge the gaps and reduce disparities in access to appropriate testing nationwide.

About INTERACT The mission of INTERACT is to bring together specialized genetic testing laboratories and patient advocacy groups to support the progression and evolution of medical policy and industry guidelines for cancer genetic testing. Our members are recognized institutions in the field of cancer genetics. Current commercial members include Ambry Genetics, a subsidiary of REALM IDx, Illumina, Myriad Genetics, Quest Diagnostics, and Volpara Health. Advocacy members include AliveAndKickn and FORCE: Facing Our Risk of Cancer Empowered. We seek to develop the evidence base and rationale to inform changes in cancer-related genetic testing policies to expand patient access to evidence-based testing.

For more information, visit: https://interactcoalition.org/

References:

Contact: [emailprotected]

SOURCE INTERACT Coalition

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INTERACT COALITION FORMED TO ADVANCE PATIENT ACCESS TO GENETIC TESTING FOR HEREDITARY ... - PR Newswire

Breed is a surprisingly complicated question, says Halie Rando, an assistant professor of computer science at Smith College who led the research. A dogs genetics may point to one breed, she says. But widely accepted breed definitions were defined in a time before DNA analysis, and Rando says that genetic testing can sometimes clash with pet owners preconceived notions about their dogs.

Even experienced humans, it turns out, are terrible at identifying breed by sight: In a recent study of 459 shelter dogs at two humane societies in Arizona and California, DNA analysis pinpointed found 125 distinct breeds, including five percent that were purebred. Nonetheless, neither the scientists nor the experienced shelter workers were able to reliably identify mixed-breed dogs, which made up nearly 90 percent of the canine cohort.

Mixed breeds can prove tricky even with DNA dataand since genetic testing relies on information about the genes of dogs with identifiable breeds, a DNA test is only as good as its genetic dataset.

As a consumer, you might value a company that is more transparent and has a diverse [DNA] panel, says Greene. He encourages consumers to do their research before submitting a sampleand double-check that the panel used by the testing company includes the breeds you suspect might be in the mix.

Even if you do get accurate information about your dogs breed, it might not be as linked to its behavior as you might think. A 2022 genetic analysis of more than 2,000 purebred and mixed-breed dogs found behavior was linked more closely to individual dogs than breeds, concluding that dog breed is generally a poor predictor of individual behavior.

Excerpt from:
Dog DNA tests are on the risebut are they reliable? - National Geographic

Jansen Jones wasnt using her hands or legs.

She lacked muscle tone and was too weak to bear weight using her extremities.

The baby could lift and move her head, but she didnt seem as strong as a 5-month-old should be, her mother believed.

"She is my third child," Suzanne Jones said, which means she's witnessed developmental milestones twice previously.

Doctors at Childrens Healthcare of Atlanta diagnosed Jansen with a nonspecific, global developmental delay.

We were just told, She's behind. No big deal. Do some physical therapy, Jones said.

But a lot of babies seem really strong, and it was clear to Jones that Jansen was not.She would curl up in a sort of ball, and sat looking sweet and happy, but did not engage with her environment.

A neurologist said a muscle biopsy might explain the deficiency, but there are false positives with muscle biopsies.

"That is invasive and leaves a scar and scared us," Jones said. "You know, you're basically cutting on her arm or leg."

When Jansen didn't babble as expected, they started speech therapy. Then, they added occupational therapy.

"We just did hours and hours of therapies nonstop for years," Jones said.

A neuro-psychological exam led doctors to say Jansen was intellectually disabled.

This happened about the same time as rare, fleeting seizures caused Jansen to space out for a second or two.

An electroencephalogram (EEG) test confirmed abnormal electrical activity in her brain.

"Well, they just said she has epilepsy," Jones said.

But Jones said the family continually witnessed symptoms that suggested that Jansen was struggling in different ways.

The idea of genetic testing came up by the time Jansen was 3 years old.

"In my opinion, if it's genetics, that's the underlying cause of everything and so that should show us what is going on," Jones said.

Jones doctors described the 46 chromosomes in the body as chapters in a book. Whole exome sequencing was like scanning the book to see whether any chapters were missing or duplicated.

For example,the characteristic features and developmental problems of a person with Down Syndrome is caused by an extra chromosome 21.

Think of that as Chapter 21.

But after having Jansen's whole exome sequenced, they still had no solid answers.

"And so we got results back when she was 3 and it did not show us what was going on," Jones said.

All the Joneses could do was treat Jansen's symptoms, which included behavior problems.

Despite managing Jansen through applied behavior therapy and medication, Jansen acted out and shecouldn't control it. Nightmares made her want to sleep in bed with her parents.

"It's not clear to me why the whole exome sequencing didn't catch it," Jones said. But it's not an infallible test.

An exome is a collection of 180,000 exons responsible for protein coding, but the human exome only comprises about 1% of the human genome.

Now, whole genome sequencing is available.

"And that is what ended up catching it," Jones said.

Jansen was diagnosed just before her 11th birthday with a disorder caused by a single gene mutation: SYNGAP1.

"This mutation was discovered only a year before Jansen was born."

Jansen's frustration stemmed from an inability to reason and communicate.

She turned 13 in October 2023.

"It's not easy," Jones said. "They have a SYNGAP snap. Sometimes their brain just [goes] haywire. And you can't you can't reason with somebody who can't reason. So behaviors can be really difficult."

"Compared to other single-gene mutations that cause epilepsy, SYNGAP1 children have a lot of problems with behavior," Jones said. "And luckily with that being a spectrum, my child has those issues, but it's not constant; it's not as prevalent."

If you have a rare disease, there is an 80% chance that its genetic. That doesnt mean the cause has been identified yet.

Karen Grinzaid with Emory University School of Medicine said she believes everyone planning a family should conduct genetic testing.

"The reason is there are genetic diseases that can happen that haven't shown up in your family yet," she said.

We all carry a number of recessive genes, but we don't know what those genes are unless either we have an affected child, or we do genetic testing.

But a whole genome test like Jansens might make would-be parents more nervous than is necessary.

"When you do broader testing like that, it may turn up problems where it's not clear what the implications are," Grinzaid said. "So, I just can't overemphasize the importance of genetic counseling to help people through this journey."

Suzanne Jones said even though her daughters diagnosis hasnt changed her daughters developmental issues, the genomic sequencing was worth it.

"It's an answer," she said. "We can finally say we understand what all these different symptoms are caused by."

And that, Jones said, makes it a lot less scary to be a parent.

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80% of rare diseases are genetic. That's why whole genome sequencing can help with diagnoses - GPB News

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Adam Christman, DVM, MBA: We're chatting so much in this day and age about customized care, individualized care, and what does that mean now that we have in Embarks DNA testing kit available? What does that look like to the pet parent's perspective and to the veterinarian that we have now, like a customizable care program?

Jenna Dockweiler, MS DVM, DACT, CCRT, CVAT: So I think we've kind of evolved as a profession over time. You know, initially we practice medicine, and then we practice species-based care, as in cats are not small dogs. Then we started to practice breed-based medicine. Perhaps these things are more breed-associated than others. This is really the next frontier, so personalized medicine.

In addition to MDR1, there are other things that are on our genetic test that could offer some personalized care. One that comes to mind for me is a variant in the POMC gene that interferes with satiety. So if you have a fat lab who comes in, which we see every day, you're doing thyroid testing, the owner swears up and down, you know, they're not feeding the dog anything extra, but he's always hungry.

So this POMC gene really can interfere with satiety and just give a reason for why that pet might be constantly hungry and potentially, maybe overweight. I find it's very helpful to point to something to say, "Hey, this is why your dog maybe has trouble with feeling full." So he's not actually starving, you know? So we can follow this weight management plan.

Adam Christman, DVM, MBA: Yeah, I love that.

Lindsey Kock, DVM: That is one of my favorite studies because if you dig into it, they used assistant dogs in that study and they found that dogs who were really trainable had that POMC mutation, but it makes sense, right? They were food motivated. And so, a lot of dogs that end up in assistance programs tend to be food motivated, tend to be easier to train. It tells us about satiety, and it tells us, you know, things that we wanna know about weight management.

But the other thing it tells us is making some training recommendations, right? So a dog who has the POMC variant might be more likely to be really trainable with food. But we may be able to talk to pet owners who have dogs that don't have that mutation about some other tactics that they can use for training too when they might be having a tough time at home. So it's interesting how when we learn about genetics, sometimes there's the second layer of other ways that that we can apply that information in practice, which is really cool.

Adam Christman, DVM, MBA: There's a practice that has this wonderful thought philosophy that says everyone is a VIP and it's very individualized for the pet and pet parent. And what they do is for every dog whether it be a rescue dog, from a breeder, a puppy, it's included in the initial visit that they already have the Embark DNA test there. What are your thoughts on that?

Jenna Dockweiler, MS DVM, DACT, CCRT, CVAT: I think that's a great way to, again, build trust between the client and the practice because everybody feels like the plan is really made together. This is individual for my dog specifically. It's not just the breed or the presumed breed mix. This is my dog so I think that's a great tactic.

Adam Christman, DVM, MBA: Yeah and because they get so excited when they see right and I, to your point, where we're just talking about the human animal bond and we want to bond with our clients in the exam room like that. You want to be excited for them and so having that discussion about genetic testing and being a proactive approach to care I think is so powerful. What are your thoughts on that?

Lindsey Kock, DVM: One thing I think about, too, is we tend to see trends carrying over from human medicine. So I think about how people's animals are parts of the family, right? And they expect them to get the same sort of personalized treatment that a family member may have gotten or that they may have gotten. And so I think, as human medicine becomes more personalized, and we start to use genomic testing in different areas of human medicine, it's important to understand how that is going to impact clients' expectation of us as veterinarians too.

For me, this plays into expectations for personalized care based on things that those clients may seek out if they've done a consumer DNA test. If they've looked at their microbiome, if someone in their family has gone through treatment for cancer and they've done personalized care. So I think the more we start thinking about this type of technology and how we can apply it, I think it's fair to think about the big picture too and client expectations.

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Personalized care and treatment plans - DVM 360

Aim to demonstrate whole genome sequencing can replace the standard diagnostic cascade, for potentially faster diagnosis and lower costs

SECAUCUS, N.J., April 2, 2024 /PRNewswire/ --Quest Diagnostics (NYSE: DGX), a leader in diagnostic information services, and Broad Clinical Labs, the world expert in whole genome sequencing (WGS), today announced a research collaboration designed to demonstrate the clinical value of WGS as a first-line genetic test for postnatal diagnosis of developmental delay disorders.

The parties expect to demonstrate that WGS can provide insightsfrom a single blood testthat are at least as clinically accurate as the multiple conventional tests providers typically use to diagnose a patient.

"We are delighted to bring the experience and expertise of Broad Clinical Labs to this innovative collaboration with Quest. We believe that the genome is a platform upon which many research, screening, and diagnostic tests can be built resulting in benefits for patients and providers alike," said Niall J. Lennon, Ph.D., Chief Scientific Officer of Broad Clinical Labs and Senior Director of Genomics at the Broad Institute of MIT and Harvard.

"WGS has the power to enable a new diagnostic paradigm, where a physician can access genetic insights faster on the patient's diagnostic journey--without multiple doctor visits and lab tests," said Mark Gardner, Senior Vice President, Molecular Genomics and Oncology at Quest Diagnostics. "Broad is the leader in genomic science and Quest is the leader in laboratory testing at scale, so together we have the right combination of skills to explore the potential of WGS to replace the conventional model."

"This research initiative by Broad and Quest involves both phenotypic and genotypic data sharing in an effort to further enhance interpretation of genomic tests and the understanding of development delay," said Heidi Rehm, Ph.D., FACMG, Medical Director of Broad Clinical Labs, and Chief Genomics Officer of Massachusetts General Hospital. "This type of collaboration between commercial laboratories and research institutions is vital to advance the field of genetic testing and increase utility and economic value."

Creating a New Testing Model to Simplify and Speed Diagnosis

Nearly 2% of children manifest intellectual disability. Yet, it can take weeks, months, or even years to identify the underlying cause of intellectual disability or developmental delay, causing a "diagnostic odyssey" for patients and their families. Identification of an underlying diagnosis can lead to changes in management that "will influence mortality, morbidity, and reduce the burden on patients and families searching for answers," according to the American College of Medical Genetics and Genomics.

While the ACMG recommends WGS for first-line genetic testing for intellectual disability and developmental delay, some providers continue to follow prior guidelines that recommend chromosomal microarray (CMA) as a first-line test. CMA is less informative than WGS, and patients whose findings are negative by CMA can require additional rounds of testing, such as with narrow gene tests or genetic panels or exome sequencing, until a cause is found.

"Now that the $100 genome is moving closer to reality, it's time to reconsider the way genetic testing is utilized and reimbursed and, ultimately, end the diagnostic odyssey for children and their families," Mr. Gardner added.

Through the collaboration, Quest will provide de-identified data, including phenotypic (a person's observable traits), and blood, saliva, and buccal swab specimens it has tested for developmental delays using CMA and other tests. Broad will then perform WGS on the de-identified specimens to determine concordance between the methods.

The collaboration will also explore the potential of WGS to provide answers for Fragile X syndrome. Unlike CMA or exome sequencing, WGS can rule out Fragile X as a cause of developmental delay and signal the need for additional confirmatory testing in those whose results suggest it as a possible cause of developmental delay.

Broad Clinical Laboratories, previously known as Clinical research sequencing platform, was founded in 2013 as a non-profit subsidiary of Broad Institute of MIT and Harvard to accelerate the genomics community and the world toward a better understanding, diagnosis, and treatment of disease by pursuing projects, developing products, and driving adoption of cutting edge -omics technologies and novel molecular assays.

Broad Clinical Labs is a leader in human whole genome sequencing, having sequenced over 600,000 genomes in service of its mission to accelerate the understanding and diagnosis of human disease. http://www.broadclinicallabs.org

About Quest DiagnosticsQuest Diagnostics works across the healthcare ecosystem to create a healthier world, one life at a time. We provide diagnostic insights from the results of our laboratory testing to empower people, physicians and organizations to take action to improve health outcomes. Derived from one of the world's largest databases of deidentified clinical lab results, Quest's diagnostic insights reveal new avenues to identify and treat disease, inspire healthy behaviors and improve healthcare management. Quest Diagnostics annually serves one in three adult Americans and half the physicians and hospitals in the United States, and our nearly 50,000 employees understand that, in the right hands and with the right context, our diagnostic insights can inspire actions that transform lives and create a healthier world. http://www.QuestDiagnostics.com.

SOURCE Quest Diagnostics

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Quest Diagnostics and Broad Clinical Labs to Evaluate Whole Genome Sequencing as First-Line Genetic Test for ... - PR Newswire

Patients in England and Wales who have recently had an ischaemic stroke or transient ischaemic attack could be offered genetic testing to help inform their treatment, following backing from the National Institute for Health and Care Excellence (NICE).

The agency has launched a second consultation on recommendations that clinicians should offer CYP2C19 genotype testing when considering treatment with clopidogrel, an anti-platelet therapy currently recommended as a treatment option for patients at risk of a secondary stroke.

Approximately 35,850 people in England, Wales and Northern Ireland have a non-minor stroke every year.

An estimated 32% of people in the UK have at least one of the highlighted CYP2C19 gene variants, and evidence has suggested that those with these variants have an increased risk of another stroke when taking clopidogrel.

If the genotype test discovers that patients have one of the CYP2C19 gene variants, alternative stroke-prevention treatments would be offered.

Professor Jonathan Benger, chief medical officer at NICE, said: Recommending a genetic test that can offer personalised care to thousands of people who have a stroke each year will be a step forward in ensuring people receive the best possible treatment.

People who are currently taking clopidogrel will not receive retrospective testing and should continue with the treatment until they and their NHS clinician consider it appropriate to stop, NICE outlined.

It added that laboratory-based CYP2C19 genotype testing is its preferred option, followed by the Genedrive CYP2C19 ID Kit point-of-care test and, if neither of the first two options are available, the Genomadix Cube point-of-care test would be used.

The agencys committee has suggested that a phased rollout could be implemented when introducing laboratory-based testing, with testing set to initially be offered to people with a higher risk of stroke recurrence.

Juliet Bouverie, from the Stroke Association, said: Stroke devastates lives and leaves people with life-long disability.

We know that many stroke survivors spend the rest of their lives fearing another stroke, so its great to see that more people could be given appropriate help to significantly cut their risk of recurrent stroke.

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NICE backs post-stroke genetic testing to identify most suitable treatment options - PMLiVE