When a national organization of genetic specialists took a stab at clarifying one of the biggest issues facing the integration of DNA sequencing into medicine in March, the bold guidelines seemed destined to stir up a hornets nest of controversy.

The recommendations suggested that patients who have their genomes sequenced should be told of select incidental findingsgenetic risk factors for conditions unrelated to the reason they got their DNA sequenced in the first place. In a major departure from current norms in the nascent field of genome sequencing, the group said patients should not have a choice about which risks they wanted to know. And risks for diseases that do not strike until adulthood were also to be disclosed to childrens parents, counter to the longstanding idea that it is important to preserve an open futuremeaning doctors should wait until the patients are old enough to decide for themselves whether they would like to know their risk of breast cancer, for example.

Now, the responsecall it a backlash, call it a healthy debatehas begun, even as the guidelines begin to have an impact on the kind of testing being offered to patients. A critique was published last week in the journal Trends in Biotechnology. Meanwhile, two companies have announced they are adopting the guidelines, though with an opt-out provision.

Dr. Robert C. Green, a medical geneticist at Brigham and Womens Hospital who co-led the working group that drafted the recommendations adopted by the American College of Medical Genetics and Genomics, said that he expected a vigorous public discussion about the guidelines and thinks the debate will benefit the field. But he added that he is surprised at how quickly things are already moving forward.

Some of the recommendations from professional organizations have taken 10 years to actually start being practiced, Green said. In this case, within weeks, two commercial labs announced they would integrate the new panel of genetic risk factors into their sequencing tests, which include mutations that cause rare heart problems or cancers. All of the conditions on the list are for serious illnesses that are clinically useful, meaning that patients can take measures to prevent disease, detect it early, or decrease their risk.

Even though the companies have decided to allow patients to decline to learn the information, Green said it was a fantastic start.

I think as clinicians order this, they may see that its not troubling the patients who opt inand they maybe discover some lifesaving information, Green said. I think it will reassure the field.

As of May 1, GeneDx announced that it will integrate the panel of gene mutations into some of its tests, although it would allow patients to decline receiving the information. A second company, Ambry Genetics, is also integrating the panel of genes associated with the two dozen conditions into its sequencing results, and will allow patients to opt out.

The opt-out provision reflects a main component of the critique published last week by two ethicists from Stanford University School of Medicine, which asserts that saying patient wishes not to learn certain genetic information should be over-ridden by physicians for the patients own good is weakly supported in modern clinical ethics.

The Stanford ethicists also question the reasoning of Greens working group, which suggested that it would be expensive and logistically onerous for laboratories and genetic counselors to implement the extra testing only conditionally, depending on the patients desire.

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Should patients be told of unexpected risk factors lurking in their DNA?

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Washington, May 23 (ANI): Scientists have identified four new genetic variants associated with an increased risk of testicular cancer.

The study was conducted by researchers at the Perelman School of Medicine at the University of Pennsylvania.

The discovery of the genetic variations could ultimately help researchers better understand which men are at high risk and allow for early detection or prevention of the disease.

Katherine L. Nathanson, MD, associate professor in the division of Translational Medicine and Human Genetics within the department of Medicine, said that certain chromosomal regions are tied into testicular cancer susceptibility, and represent a promising path to stratifying patients into risk groups-for a disease known to be highly heritable.

Tapping into 3 genome-wide association studies (GWAS), the researchers, including Peter A. Kanetsky, PhD, MPH, an associate professor in the department of Biostatistics and Epidemiology, analyzed 931 affected individuals and 1,975 controls and confirmed the results in an additional 3,211 men with cancer and 7,591 controls.

The meta-analysis found that testicular germ cell tumor (TGCT) risk was significantly associated with markers at four loci-4q22, 7q22, 16q22.3, and 17q22, none of which have been identified in other cancers.

Additionally, these loci pose a higher risk than the vast majority of other loci identified for some common cancers, such as breast and prostate.

The study has been published in Nature Genetics. (ANI)

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4 new genetic risk factors for testicular cancer identified

Recommendation and review posted by Bethany Smith

SUNDAY, May 12 (HealthDay News) -- Twelve new genetic regions associated with an increased risk of testicular cancer have been identified by researchers in two studies.

One study identified four regions and the other identified eight regions, bringing to 17 the total number of genetic regions associated with testicular cancer. The studies were published online May 12 in the journal Nature Genetics.

Testicular cancer is the most common type of cancer diagnosed in young American men.

The findings could eventually help scientists better understand which men are at high risk and enable early detection or possibly even prevention of the disease, the researchers said.

The team, including Peter Kanetsky, an associate professor of biostatistics and epidemiology at the University of Pennsylvania Perelman School of Medicine, identified four of the 12 new genetic regions after analyzing the genomes of more than 13,000 men.

None of the four regions has been linked to other cancers. They pose a higher risk than other regions identified for some common cancers, such as breast and prostate cancer, according to a school news release.

Testicular cancer is highly inheritable. A man whose father or son has testicular cancer has a four to six times higher risk of developing the disease than a man with no family history. The risk is up to 10 times higher if the man also has a brother with testicular cancer.

-- Robert Preidt

Copyright 2013 HealthDay. All rights reserved.

SOURCE: University of Pennsylvania Perelman School of Medicine, news release, May 12, 2013

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Scientists Discover More Genetic Clues to Testicular Cancer

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Myriad Genetics is up sharply since reporting a strong quarter last week, and traders are betting on more gains ahead.

Nearly 4,000 August 33 calls traded in a strong buying pattern this morning, led by a print of 3,001 contracts that went for $3.75, according to optionMONSTER's Heat Seeker system. These are clearly fresh purchases, as the volume was well above the strike's open interest of 1,656 contracts before the session began.

MYGN is up fractionally at $33.19 in midday trading. The shares gapped up from the $28 level after the medical-diagnostics company posted earnings and revenues estimates while raising guidance last Tuesday.

Today's long calls , which lock in the price where the stock can be bought no matter how far it might rise, are looking for MYGN to rally roughly 11 percent or more by expiration in mid-August. But these calls, which will track the share price closely because they are already in the money , will rapidly lose value if the stock doesn't rise. (See our Education section)

Overall option volume in the name today is already almost 6 times its full-session average. Calls outnumber puts by 16 go 1, a reflection of the bullish sentiment.

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MENAFN - AFP - 12/05/2013

(MENAFN - AFP) Separate studies of the human genome have found tantalising clues to the inherited causes of testicular cancer and non-inherited causes of congenital heart disease, journals reported on Sunday.University of Pennsylvania researchers looked at the DNA of more than 13,000 men, comparing the DNA code of those with testicular cancer -- the commonest form of cancer diagnosed among young men today -- against men who were otherwise healthy.They found four new variants that increase the risk of this disease, bringing the tally of known mutations to 17, according to research reported in Nature Genetics.Meanwhile, investigators at the Yale School of Medicine found a clutch of gene mutations, absent in parents but found in their offspring, which account for at least 10 percent of cases of severe congenital heart disease, a birth defect that afflicts nearly one percent of babies."Most interestingly, the set of genes mutated in congenital heart disease unexpectedly overlapped with genes and pathways mutated in autism," said Richard Lifton, a professor of genetics."These findings suggest there may be common pathways that underlie a wide range of common congenital diseases."The study appears in the journal Nature.Genomics is one of the fastest-moving areas of medical research.Identifying genetic signatures associated with disease opens up the prospect of DNA tests to identify people most at risk. They also throw open avenues of research to block or reverse the disease.

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Gene clues for testicular cancer, heart defect

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Newswise PHILADELPHIAA new study looking at the genomes of more than 13,000 men identified four new genetic variants associated with an increased risk of testicular cancer, the most commonly diagnosed type in young men today. The findings from this first-of-its-kind meta-analysis were reported online May 12 in Nature Genetics by researchers at the Perelman School of Medicine at the University of Pennsylvania.

The discovery of these genetic variationschromosomal typos, so to speakcould ultimately help researchers better understand which men are at high risk and allow for early detection or prevention of the disease.

As we continue to cast a wider net, we identify additional genetic risk factors, which point to new mechanisms for disease, said Katherine L. Nathanson, MD, associate professor in the division of Translational Medicine and Human Genetics within the department of Medicine. Certain chromosomal regions, what we call loci, are tied into testicular cancer susceptibility, and represent a promising path to stratifying patients into risk groupsfor a disease we know is highly heritable.

Tapping into three genome-wide association studies (GWAS), the researchers, including Peter A. Kanetsky, PhD, MPH, an associate professor in the department of Biostatistics and Epidemiology, analyzed 931 affected individuals and 1,975 controls and confirmed the results in an additional 3,211 men with cancer and 7,591 controls. The meta-analysis revealed that testicular germ cell tumor (TGCT) risk was significantly associated with markers at four loci4q22, 7q22, 16q22.3, and 17q22, none of which have been identified in other cancers. Additionally, these loci pose a higher risk than the vast majority of other loci identified for some common cancers, such as breast and prostate.

This brings the number of genomic regions associated with testicular cancer up to 17including eight new ones reported in another study in this issue of Nature Genetics.

Testicular cancer is relatively rare; however, incidence rates have doubled in the past 40 years. It is also highly heritable. If a man has a father or son with testicular cancer, he has a four-to six-fold higher risk of developing it compared to a man with no family history. That increases to an eight-to 10-fold higher risk if the man has a brother with testicular cancer.

Given this, researchers continue to investigate genetic variants and their association with cancer.

In 2009, Dr. Nathanson and colleagues uncovered variation around two genesKITLG and SPRY4found to be associated with an increased risk of testicular cancer. The two variants were the first striking genetic risk factors found for this disease at the time. Since then, several more variants have been discovered, but only through single GWAS studies.

This analysis is the first to bring several groups of data together to identify loci associated with disease, said Dr. Nathanson, and represent the power of combining multiple GWAS to better identify genetic risk factors that failed to reach genome-wide significance in single studies.

The team also explains how the variants associated with increased cancer risk are the same genes associated with chromosomal segregation. The variants are also found near genes important for germ cell development. These data strongly supports the notion that testicular cancer is a disorder of germ cell development and maturation.

Continue reading here:
Researchers Identify Four New Genetic Risk Factors for Testicular Cancer

Recommendation and review posted by Bethany Smith

May 12, 2013 A new study looking at the genomes of more than 13,000 men identified four new genetic variants associated with an increased risk of testicular cancer, the most commonly diagnosed type in young men today. The findings from this first-of-its-kind meta-analysis were reported online May 12 in Nature Genetics by researchers at the Perelman School of Medicine at the University of Pennsylvania.

The discovery of these genetic variations -- chromosomal "typos," so to speak -- could ultimately help researchers better understand which men are at high risk and allow for early detection or prevention of the disease.

"As we continue to cast a wider net, we identify additional genetic risk factors, which point to new mechanisms for disease," said Katherine L. Nathanson, MD, associate professor in the division of Translational Medicine and Human Genetics within the department of Medicine. "Certain chromosomal regions, what we call loci, are tied into testicular cancer susceptibility, and represent a promising path to stratifying patients into risk groups -- for a disease we know is highly heritable."

Tapping into three genome-wide association studies (GWAS), the researchers, including Peter A. Kanetsky, PhD, MPH, an associate professor in the department of Biostatistics and Epidemiology, analyzed 931 affected individuals and 1,975 controls and confirmed the results in an additional 3,211 men with cancer and 7,591 controls. The meta-analysis revealed that testicular germ cell tumor (TGCT) risk was significantly associated with markers at four loci -- 4q22, 7q22, 16q22.3, and 17q22, none of which have been identified in other cancers. Additionally, these loci pose a higher risk than the vast majority of other loci identified for some common cancers, such as breast and prostate.

This brings the number of genomic regions associated with testicular cancer up to 17 -- including eight new ones reported in another study in this issue of Nature Genetics.

Testicular cancer is relatively rare; however, incidence rates have doubled in the past 40 years. It is also highly heritable. If a man has a father or son with testicular cancer, he has a four-to six-fold higher risk of developing it compared to a man with no family history. That increases to an eight-to 10-fold higher risk if the man has a brother with testicular cancer.

Given this, researchers continue to investigate genetic variants and their association with cancer.

In 2009, Dr. Nathanson and colleagues uncovered variation around two genes -- KITLG and SPRY4 -- found to be associated with an increased risk of testicular cancer. The two variants were the first striking genetic risk factors found for this disease at the time. Since then, several more variants have been discovered, but only through single GWAS studies.

"This analysis is the first to bring several groups of data together to identify loci associated with disease," said Dr. Nathanson, "and represent the power of combining multiple GWAS to better identify genetic risk factors that failed to reach genome-wide significance in single studies."

The team also explains how the variants associated with increased cancer risk are the same genes associated with chromosomal segregation. The variants are also found near genes important for germ cell development. These data strongly supports the notion that testicular cancer is a disorder of germ cell development and maturation.

Continue reading here:
Four new genetic risk factors for testicular cancer identified

Recommendation and review posted by Bethany Smith

Public release date: 12-May-2013 [ | E-mail | Share ]

Contact: Steve Graff stephen.graff@uphs.upenn.edu 215-349-5653 University of Pennsylvania School of Medicine

PHILADELPHIAA new study looking at the genomes of more than 13,000 men identified four new genetic variants associated with an increased risk of testicular cancer, the most commonly diagnosed type in young men today. The findings from this first-of-its-kind meta-analysis were reported online May 12 in Nature Genetics by researchers at the Perelman School of Medicine at the University of Pennsylvania.

The discovery of these genetic variationschromosomal "typos," so to speakcould ultimately help researchers better understand which men are at high risk and allow for early detection or prevention of the disease.

"As we continue to cast a wider net, we identify additional genetic risk factors, which point to new mechanisms for disease," said Katherine L. Nathanson, MD, associate professor in the division of Translational Medicine and Human Genetics within the department of Medicine. "Certain chromosomal regions, what we call loci, are tied into testicular cancer susceptibility, and represent a promising path to stratifying patients into risk groupsfor a disease we know is highly heritable."

Tapping into three genome-wide association studies (GWAS), the researchers, including Peter A. Kanetsky, PhD, MPH, an associate professor in the department of Biostatistics and Epidemiology, analyzed 931 affected individuals and 1,975 controls and confirmed the results in an additional 3,211 men with cancer and 7,591 controls. The meta-analysis revealed that testicular germ cell tumor (TGCT) risk was significantly associated with markers at four loci4q22, 7q22, 16q22.3, and 17q22, none of which have been identified in other cancers. Additionally, these loci pose a higher risk than the vast majority of other loci identified for some common cancers, such as breast and prostate.

This brings the number of genomic regions associated with testicular cancer up to 17including eight new ones reported in another study in this issue of Nature Genetics.

Testicular cancer is relatively rare; however, incidence rates have doubled in the past 40 years. It is also highly heritable. If a man has a father or son with testicular cancer, he has a four-to six-fold higher risk of developing it compared to a man with no family history. That increases to an eight-to 10-fold higher risk if the man has a brother with testicular cancer.

Given this, researchers continue to investigate genetic variants and their association with cancer.

In 2009, Dr. Nathanson and colleagues uncovered variation around two genesKITLG and SPRY4found to be associated with an increased risk of testicular cancer. The two variants were the first striking genetic risk factors found for this disease at the time. Since then, several more variants have been discovered, but only through single GWAS studies.

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Penn Medicine researchers identify 4 new genetic risk factors for testicular cancer

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