The GAO on DTC: One Report, Many Opinions

"Of little or no practical use." “Not ready for prime time.” “Misleading.” These are only a few of the ways in which a recent Government Accountability Office report and subsequent Congressional hearings have characterized the direct-to-consumer genetic testing industry. In the days and weeks since, voices from the industry itself have criticized the GAO’s methods, claiming that it smears reputable companies alongside those barely better than scams.

The first we at the Center heard of it was from The New York Times, in a blog post (“Federal ‘Sting’ Slams Gene Tests”). The initial reports were quite damning:

Federal investigators bought 10 kits each from four companies that sell such tests, selected real donors to send in their samples for testing, and then, posing as fictitious customers seeking health advice about the results, made calls to the companies.

From inconsistent risk assessments to flat-out illegal over-the-phone results counseling, the news seemed to go from bad to dire. From MIT’s Technology Review, we hear more about the “advice” given to fictitious customers:

Congress and the U.S. Food and Drug Administration are trying to regulate this nascent but burgeoning field even amid uncertainty over the meaning of test results that indicate someone has genetic risks for certain diseases. "The problem with these marketing practices is that it is not clear today whether the exciting scientific developments in human genetics research actually transfer into ways to improve and individualize health care," Rep. Henry Waxman (D-CA) said Thursday at a congressional hearing on the industry.

The most shocking findings from the GAO report come from a series of undercover phone calls made to 15 genetic testing companies. Fictitious consumers asked about test reliability, privacy policies, and sales of nutritional supplements or other products tailored to an individual's DNA. In the phone calls, people who sound like telemarketers are heard giving unsubstantiated and sometimes nonsensical medical advice. For example, at least four companies "claimed that a consumer's DNA could be used to create personalized supplements to cure disease," according to the GAO. Two companies condoned the "potentially illegal practice of testing DNA without prior consent." Overall, the GAO found, 10 of the 15 companies engaged in fraudulent or deceptive marketing.

The American Medical Association has come out against DTC genetic testing, as it can circumvent consultation with a physician or a genetic counselor. American Medical News laid out the variation in disease risk predictions among companies, as well as some details of the Congressional hearing:

Members of the House Energy and Commerce oversight subcommittee praised recent advances in genetic research while questioning the value of the consumer genetic tests. Energy and Commerce Chair Henry Waxman (D, Calif.) asked if consumers would lose any benefits if new regulations forced the companies out of business.

Representatives from three major consumer genetic testing companies testified at the hearing. None were able to review GAO testimony in advance, which is a routine courtesy for congressional committee panelists.

The differing genetic test results were probably due to different methods of interpreting the genetic markers, testified Ashley Gould, general counsel for 23andMe, one of the companies investigated by the GAO. Gould said 23andMe believes its customers can rely on its interpretations.

The San Diego Union-Tribune also relayed harsh words concerning DTC companies, particularly regarding issues of racial parity.

Rep. Donna Christensen, a Democrat representing the Virgin Islands who also is a retired physician, also questioned the fairness of selling genetic tests to blacks, Hispanics and other minorities.

Since the data used to analyze DNA samples come primarily from white subjects, many of the screenings don’t work for nonwhites.

In its own statement, 23andMe said "the GAO refused to discuss its flawed report with us," and added that "we are confident in our service's accuracy, reliability and value." The company also said it looks forward "to helping to develop a regulatory framework that provides standards and transparency across the industry."

23andMe's co-founder, Anne Wojcicki, is married to Sergey Brin, a co-founder of Google, which partly financed 23andMe.

We are confident in our service’s accuracy and reliability. It is widely accepted that the technology we are using is sound. We understand that GAO did not find any problem with the underlying data that we provide – the As, Cs, Ts and Gs. What is at question is whether or not one part of the information about that data that we provide is of value, and we believe strongly that it is.

The GAO report focused only on disease risk probabilities. It did not focus on ancestry or the trait reports we offer. It also failed to address that we also provide information about carrier status for single gene diseases such as cystic fibrosis and Tay-Sachs disease, as well as the fact that we provide information about a customer’s likely response to certain prescription medications that have been shown in clinical trials to have differing effects and side effects depending on a person’s genetic make-up. This suggests that GAO found no problems with these parts of our service.

…the GAO highlighted different interpretations in risk of outcomes reported by the GAO. We appreciate how one concludes from this that these tests are unreliable, but it is important to recognize that only applies to the health conditions report, not carrier status or drug response and that this report provides an estimate of risk, not a diagnosis of disease or prediction. Differences in interpretation of test results are not uncommon in medical care. This is why second opinions are often requested by patients, and it is why doctors differ in their opinions on how to guide patient treatment.

It is for these reasons that we encourage our customers to use this information as one additional piece of information to be used in making health decisions, as an enhancement to and not a replacement for other risks including environment, lifestyle and family history. Pathway, 23andMe and Navigenics all apply different rules for which genetic markers to use and which research paper to reference for odds ratio calculations, but that does not make them incorrect. Additionally, we support the common conclusion that regulatory bodies and industry need to agree on standards, and look forward to an ongoing dialogue with FDA and others to define those.

23andMe concluded by offering up hope that cooperation between the FDA and the DTC industry was imminent:

These are serious issues that deserve serious and thoughtful discussion. Standards are needed in the genetic testing industry. We have been working towards these since the inception of our company, and we were pleased to hear FDA say that they are interested in developing a new type of regulatory framework that can deal with the many special aspects of direct-to-consumer genetic testing while still providing consumers with the protections they need and deserve. 23andMe is meeting with the FDA today and looks forward to fruitful discussion.

Ultimately, of course, the central component of any discussion about DTC issues must be the consumer. Certainly these discussions have raised awareness of these issues – Newsweek just concluded a weeklong series following a woman deciding whether or not to get testing. But awareness must be coupled with education and proper application of these resources.

The National Society of Genetic Counselors (NSGC) weighed in following the GAO hearings:

“Genetic tests can reveal life-changing information, both positive and negative, but misinterpreting test results can be dangerous,” said Elizabeth Kearney, President of NSGC. “The most important first step for consumers to understand when considering genetic testing is what can be learned from the test, and the impact the results could have on their lives and families. Genetic testing should only be done through guidance of a genetic counselor or health care provider whose role is to protect the consumer, and assure they have appropriate testing and an accurate understanding of the results.”

The press release also lays out the potential issues that may arise if a consumer does not consult a genetics professional in the testing process. In a JUF News article last month, Center director Karen Litwack offered similar cautions, stating, “Without consulting a genetic counselor before and after testing, even the most sophisticated consumer may not understand what they are being tested for, and have no real way of understanding or interpreting results on their own.”

Patient Advocate Foundation Announces Additional Support for Co-Pay Relief Program

Note: This press release describes an addition to an already existing financial resource for cancer patients, which covers many different types of cancer. Visit the links below for more information.

Patient Advocate Foundation Announces Additional Support for Co-Pay Relief Program Serving Prostate Cancer Patients

Co-Pay Relief Program Provides Direct Financial Support for Pharmaceutical Co-Payments to Insured Patients in Medical and Financial Need

WASHINGTON, D.C. (July 29, 2010) –Patient Advocate Foundation (PAF) – a national non-profit organization that seeks to safeguard patients through effective mediation assuring access to care, maintenance of employment and preservation of their financial stability relative to their diagnosis of life threatening or debilitating diseases – is pleased to announce that it has received a substantial contribution which will provide additional funding support for prostate cancer patients through its Co-Pay Relief Program (CPR).

PAF’s Co-Pay Relief Program provides direct financial support for pharmaceutical co-payments to insured patients, including Medicare Part D beneficiaries, in 20 disease categories who financially and medically qualify. Since the program’s inception in April 2004, CPR has distributed more than $77,650,000.00 million in assistance to over 36,000 patients nationwide who were unable to afford their out of pocket pharmaceutical expenses. In the last year, several internal enhancements have been made to the Co-Pay Relief Program to improve patient access including raising federal poverty (FPL) guidelines from 250% to 500% and creating 24-hour provider application portal.

“We are thrilled to announce additional funding for prostate cancer patients, which will allow us to offer financial assistance to hundreds of additional patients each year. PAF is committed to improving the quality of life of patients facing medical and financial hardship through our professional case management and Co-Pay Relief services,” said Nancy Davenport-Ennis, Founder and CEO of PAF. “A cancer diagnosis can be the most overwhelming experience a person may ever face in his or her lifetime. Coupled with high out of pocket costs associated with treatments and therapies, the journey can become significantly more challenging to manage – so we are particularly pleased to be able to offer assistance to so many more patients, which will lead to more thorough management of their disease.”

In 2009, over 18 percent of the patients who requested information and assistance from PAF reported pharmaceutical co-pay expenses as their number one access issue. Forty-five percent of the patients seeking help were over the age of 65, a 25% increase from 2008.

Patient Advocate Foundation and its companion organization, the National Patient Advocate Foundation (NPAF), were founded on the principle that health care is a basic human need and shared social responsibility. Annually, PAF receives thousands of contacts requesting information and assistance via their toll-free hotline as well as online. Complete direct, sustained case management services are provided to patients from all fifty states free of charge. For more information about PAF, visit www.patientadvocate.org or call toll free (800) 532-5274. For more information about PAF’s Co-Pay Relief Program visit www.copays.org or call toll free (866) 512-3861.

Change is afoot...

Direct-to-consumer (DTC) genetic testing seems to be the hot topic these days. This type of testing can (at present) be ordered online from the comfort of your home, and provides information about various genetic disorders, traits, ancestry, and possible disease risks based on analysis of your DNA. The more well known the DTC companies have become, the more public concerns have arisen. While these concerns have been alive and well in the genetics community for some time, they’ve now gone mainstream, causing the FDA to stand up and take notice. Last month Walgreens decided to hold off on carrying “at-home” genetics kits after the FDA got wind and questioned the legality of these kits. Congress and the FDA are now investigating several such DTC companies, including Pathway Genomics, Navigenics, and 23andMe. There is debate about whether the testing kits need to be government-regulated. It’s somewhat an issue of semantics: if the testing is medically diagnostic, it needs to be regulated. If it is for “informational” purposes only, as most of the companies claim, then it would not technically need to be regulated. Regardless, it’s reassuring that the FDA is looking into it.

Also in the wake of the current debate, Counsyl (see previous post and discussion), a similar company, decided to halt its DTC testing, and now offers its kits only through physicians’ offices. I was told that this change was made based on “community feedback.” Whether the “community” refers to their customers, genetics professionals, or the FDA, it’s hopefully a change for the better. Another recent change, 23andMe enlisted the services of an independent genetic counseling company to provide easy access to counseling for their clients. Our message seems to have gotten through that this information requires explanation.

23andMe made the news feeds again yesterday as it became public that a lab error (at an outside lab who performs their testing) resulted in a number of customers receiving the wrong test results. The company seems to have handled the mix-up well and notified all affected customers right away. The error has led 23andMe to look further into their testing process to reduce the chance of error.

Much of the information that such testing can provide may prove to be useful, but there is much that is still unknown. DTC testing took off at warp speed, and I’m happy to see that things are slowing down a bit, for the moment. For any genetic test, we need to ensure the accuracy and efficacy, the benefits and risks must be clearly presented, and access to a genetics professional should be readily available. This is even more important when consumers are ordering the testing themselves without the guidance of a medical professional (see Center statement on DTC genetic testing). This is an exciting time in genetics, and while personal genomics may be straight ahead, we still need to look both ways before moving forward.

History, culture and genes: Study explores Jewish genomics

Researchers from the Albert Einstein College of Medicine of Yeshiva University and New York University School of Medicine have just released an incredibly exciting study in The American Journal of Human Genetics. The title is a little wordy, but “Abraham's Children in the Genome Era: Major Jewish Diaspora Populations Comprise Distinct Genetic Clusters with Shared Middle Eastern Ancestry” (abstract) is a milestone.

According to The Los Angeles Times, “The study examined 237 Jewish individuals from seven regions of the world, comparing them with 418 non-Jewish people from the same regions. Each of the Jewish subjects had all four grandparents from the same population.”

The Center is particularly excited by this study because its goals align so closely with ours.

Although the study sheds light on Jewish history — providing new information about the separation between North African and European Jews 2,500 years ago and the near extinction of European Jews in the Middle Ages — its major goal is to identify genes for many diseases that are more common in Jewish groups, such as breast cancer, Gaucher’s disease and Tay-Sachs.

The higher incidence of those diseases among “Abraham's children” will allow scientists to more readily find genes that cause the illnesses and then extend that knowledge to the general population, said geneticist Gil Atzmon of Yeshiva University’s Albert Einstein College of Medicine in New York, coauthor of the paper.

7thSpace Interactive had some further insights on the study’s methods and results:

“This study provides new genomic information that can benefit not only those of Jewish ancestry, but the population at large,” said co-author Edward Burns, M.D ., executive dean and professor of pathology and of medicine at Einstein. “By providing a comprehensive genetic fingerprint of various Jewish subpopulations, it can help us understand genetic links to heart disease, cancer, diabetes and other common diseases.”

New Scientist examines how cultural and historical evidence ties into the genomic study:

The genetic analysis shows that amongst modern Jews, the populations that are most genetically similar are those originating from Iraq and Iran [ancient Babylon and Persia]. The rest share much more of their DNA with non-Jewish Europeans and North Africans, which may be why many Jews whose recent ancestors lived in Europe or Syria have blond hair or blue eyes.

The team found genetic traces of a period of intense conversion to Judaism during the time of the Roman Empire, when up to 10 per cent of citizens were Jewish. Among modern non-Jewish Europeans, Italians, Sardinians and the French are most closely genetically similar to modern Jews, the team found.

Newsweek sums up the study’s findings:

[…S]cientists report that the Jews of the Diaspora share a set of telltale genetic markers, supporting the traditional belief that Jews scattered around the world have a common ancestry. But various Diaspora populations have their own distinct genetic signatures, shedding light on their origins and history. In addition to the age-old question of whether Jews are simply people who share a religion or are a distinct population, the scientific verdict is settling on the latter.

The Center congratulates the authors of the study on a tremendous step in the pursuit of insights regarding Jewish genetic disorders and hereditary cancers, and looks forward to spreading the word of further discoveries that help us understand and prevent them.

Statements on over-the-counter and direct-to-consumer genetic testing

In light of recent events, with news flashes announcing that Walgreens would, and then wouldn't, be carrying home genetic testing kits, we at the Center wanted to address the issue of direct-to-consumer genetic testing (DTC).

The information obtained from such a test is not basic and in no way straightforward, so we caution consumers from purchasing such tests without talking to a genetics professional. Some companies are comparing these kits to a pregnancy test, but I don't think it's a fair comparison. A pregnancy test is positive or negative, and if there's any ambiguity, you would take another pregnancy test and/or go see your doctor. Genetic testing results may appear to give a yes or no answer, but the majority of the time this is not the case. For example, if you have a "negative" carrier test for a recessive disorder like Tay-Sachs disease, it means that you do not have any of the mutations included in that particular testing panel. It does not mean that your chance of being a carrier has been reduced to zero. A genetics professional can explain what your results mean (and do not mean) and help determine if the testing is appropriate for you personally. Our concern is that consumers will jump to undergo this testing but be unprepared for or misinformed about what the results may mean.

The National Society of Genetic Counselors (NSGC) has posted a position statement about DTC genetic testing as well as the personal genetic testing kits that may one day be available at your local pharmacy. These statements provide points to consider before undergoing such testing.
 

Statement from the National Society of Genetic Counselors Regarding Personal Genetic Testing Kits Available Through Retail Pharmacies

The National Society of Genetic Counselors (NSGC) recognizes that personal genetic testing kits available through retail pharmacies may increase access to medical testing services for some individuals. However, receiving genetic information directly from a manufacturer or supplier and without input from a qualified health care provider increases the chance for misunderstanding or misinterpretation of results.

“Distributing genetic testing through pharmacies will expose more people to its availability. However, people should first meet with a genetic counselor to determine whether genetic testing is right for them and to prepare for what they might learn,” said Elizabeth Kearney, NSGC’s president.

NSGC recommends individuals ask the following questions before they consider undergoing
genetic testing:

1. What will the test tell me? Discuss with your genetic counselor what you would like to learn from genetic testing. There are many different types of genetic tests. If the wrong test is ordered, it may not give you information about your medical concerns.
2. What is the scientific basis for the testing? Some genetic tests provide more conclusive results than others. Also, a genetic counselor can integrate the test results with your medical and family history to provide more powerful and useful information.
3. What might you do with the information once you know the results? Consider the implications of knowing the test results and the impact that could have on you and your family, both medically, emotionally and in terms of life planning.
4. Will there be a knowledgeable health care professional involved with giving you the test results? It is important that someone who has expertise in genetics helps you understand and interpret your test results. For example, genetic counselors have specialized training in medical genetics and counseling and have Master’s degrees in their field.

For more information or to find a genetic counselor in your area, visit www.nsgc.org.

The National Tay-Sachs and Allied Diseases Association (NTSAD) also released a statement over its online newsletter, expressing concern over Pathway's methods of detecting mutations:

Topic of the Week
AT HOME GENETIC TESTING

The media has been abuzz this week about a new at-home genetic testing product that may be available soon at your local drugstore. However, the FDA has raised concerns that the product is not legal to sell in stores without their permission so Walgreens is waiting for clarification of the regulations before stocking their shelves.

The test screens DNA for a variety of diseases including Tay-Sachs and Canavan. While NTSAD supports any effort that increases awareness, we are concerned the product only provides DNA testing which is not as sensitive as the enzyme assay for Tay-Sachs*. It is also concerning that genetic information is given without an opportunity to discuss the results with medical professional.

This may be the first product that will be available at your local drug store; however at-home genetic screening products have been available online for some time. NTSAD has the same concerns about all these products: it is great to raise awareness of the power of genetic information but it is important to make sure the tests are as accurate and sensitive as possible and the results are discussed with a medical professional. NTSAD is currently talking with a genetic testing provider about these concerns.

*Last fall NTSAD released a position statement, Standards for Tay-Sachs Carrier Screening, to promote the most sensitive method for detecting Tay-Sachs carriers. The position statement advocates the enzyme assay as the primary method for Tay-Sachs carrier screening. Over 100 mutations have been identified in the Tay-Sachs gene. DNA carrier screening only 'looks' for a small number of mutations common to the Ashkenazi Jewish community whereas enzyme assay testing can detect a carrier with any mutation. DNA testing can and should be used to confirm Tay-Sachs enzyme results, to clarify indeterminate enzyme results, to identify cases of pseudodeficiency, as well as to provide molecular information for reproductive procedures and genetic counseling (Kaback, 1999).

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