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Direct to Consumer Genetic Testing – mostly harmless

Direct-to-consumer (DTC) genetic testing, genetic tests available to the general public that do not require the involvement of a health care practitioner, have been on the market for nearly a decade now, but there is still a great deal of controversy surrounding this type of testing and what regulation is needed. In 2013 the FDA issued a warning letter to companies that manufacture these test, including 23andMe, ordering these companies to cease DTC marketing of genetic tests “intended for use in the diagnosis of disease or other conditions or in the cure, mitigation, treatment, or prevention of disease.” As a result of these letters, many companies altered their services. Some, like 23andMe, limited the types of testing offered to mapping ancestry. Others still marketed to consumers but began requiring involvement of a physician to order the tests while some have left the field entirely.

Just this past week, however, the FDA has issued a statement that will allow 23andMe to again begin marketing autosomal recessive carrier screening tests. These tests allow people hoping to be parents to see if they carry genetic information that might, if both partners carry the same trait, increase the likelihood that their children might have certain diseases (i.e. cystic fibrosis). In this statement, Alberto Guttierez, director of the Office of In Vitro Diagnostics and Radiological Health, said “The FDA believes that in many circumstances it is not necessary for consumers to go through a licensed practitioner to have direct access to their personal genetic information. Today’s authorization and accompanying classification, along with FDA’s intent to exempt these devices from FDA premarket review, supports innovation and will ultimately benefit consumers.” This may lead the way for other genetic testing to become available to become available without physician intervention.

The genetic tests that have been available to the general public claim to offer a variety of information ranging from information about your ethnic background and ancestry, whether you are likely to have strong body odor or lack the ability to taste bitterness, whether you carry genes for certain illnesses like cystic fibrosis, or your lifetime risk of developing certain types of cancer. The promotional literature uses phrases like “empowerment” and “identity perception”, promoting the idea of autonomy in health care decision-making. Supporters of increased access to genetic testing suggest that people who are aware of their genetic risks for developing certain disease are more likely to make proactive health choices.

Many geneticists and physicians groups, including the American Medical Association and American Congress of Obstetricians and Gynecologists, as well as many European countries (Howard, 2012), have argued that it is inappropriate for these tests to be available to the public without medical supervision. They feel that people should receive appropriate genetic counseling before and after testing to help them understand the significance of the results and guide decision-making based on the results. They also feel that genetic testing should be ordered by a clinician to ensure that only tests appropriate for the individual are ordered.

Some who oppose home genetic testing feel that these tests may result in people making risky decisions about health care choices or place increased burden on the health care system in the form of people requesting further tests and procedures. In fact, the 2013 FDA letter to 23andMe said of testing for breast cancer susceptibility “…[a false positive] could lead a patient to undergo prophylactic surgery, chemo-prevention, intensive screening, or other morbidity-inducing actions…” As Edwards and Huang (2014) of the Hastings Center point out, “This assertion fails to account for how DCT genetic testing results are used in practice. The “morbidity-inducing actions” cited by the FDA can occur only with the willing participation of a doctor.”

Roberts and Ostergren (2013) have complied a review of empirical studies and some of the studies they report would seem to refute the concerns about poor decision-making and burdens on the system. Some examples include a report that less than 1/5 of respondents in one study made changes to their medication or supplement regimen and 1/3 that they had modified their diet; about 1/4 of respondents in this study did discuss their results with a health care professional. Another study suggested that while persons who used these genetic tests were slightly more likely to visit their physician per quarter, there was no significant change in utilization after testing.

From personal experience as a health care provider, I feel that the concerns about burdens on the health care system and people’s commitment to changes in lifestyle or health care are overblown. I suspect most of the people who utilize these tests are people who do take some degree of ownership for their health care decisions and do work with their health care providers. I think it is likely that further research will continue to support that there is no significant change in health care utilization even if DTC genetic testing becomes more prevalent. And it is important to remember that people do have to go through their health care provider to get medication and additional testing or procedures. Providers can thus help individuals who have concerns about the results of their genetic tests understand the significance of the results and review further testing and treatment options with them.

Some have argued that, as with any genetic testing, receiving test results that demonstrate risk for a disease could result in anxiety and depression. Yes, receiving information about a high probability of developing cancer or Huntington’s Disease would be upsetting, but it would also be upsetting to receive the information from a trained professional. Having someone trained in genetic counseling to help answer questions and make appropriate referrals can offer some immediate reassurance when people are first presented with such information (and would be optimal), but it cannot alleviate the burden entirely. According to Effy Vayena (2014) in Journal of Medical Ethics:

[I]t has not been shown that (the absence of genetic counseling) seriously impairs autonomous decision making….most studies that have been conducted so far show that consumers do not suffer psychological harms, nor do they take action to alter their lifestyle in response to their genomic profiles.

It is important to remember that people who use DTC genetic testing are able to call their health care practitioner and review the results to put things in context and discuss appropriate follow-up.

DTC genetic testing does offer the possibility that individuals will be able to understand their risk for developing a certain disease or the chance that they may pass on a recessive trait to their children. This knowledge may help them in their health care and lifestyle decisions. I feel that people do deserve this autonomy, to decide for themselves if and how they want to get this information and how they will use it. I feel that it is overly paternalistic of the medical community to wish to allow access to this information only under the guidance of a medical professional. The people most likely to pursue this type of testing are also those most likely to seek medical attention. Health care providers will still be involved in helping patient’s understand the results of their test and help explain the patient’s choices.

While access to DTC genetic testing may have value in promoting autonomy in health care decision making, there are four areas that I think do deserve careful consideration in regards to DTC genetic testing: protection from discrimination, protection of data, truth in advertising, and validity of testing.

Discrimination: There are concerns that genetic test results might be used to limit insurance coverage or employment opportunities. These concerns were at least in part addressed by the Genetic Information Non-discrimination Act of 2008, but there are likely loopholes that still might allow individuals to be at risk of discrimination. For instance, life insurance companies might require disclosure of known risks for developing certain illnesses. Would knowledge of the results of a genetic test that present a probability of developing such an illness and not reporting it to the insurance company result in an individual’s insurance claims being denied should that disease develop? As Lewis Vaughn (2013, p 524) points out “In most cases, the chance that specific mutations will result in a particular disease are difficult or impossible to gauge. Is it acceptable to discriminate against people when the basis for that discrimination is so dubious?”

Privacy: Some companies admit that they are selling unidentified data to third parties. However, there is concern that even this data has the potential for abuse. Callier (2012) cites a study has shown that it is sometimes even possible to re-identify data based solely on genetic information, gender, and age so there is a chance that even this data could impose a breach of privacy. Another concern comes from the storage of data. For instance, two large companies that had offered DTC genetic testing, deCODEme and Navigenics now no longer offer these services. They do supply some information to consumers about the use and protection of their genetic data but it would seem to me that genetic information should be guaranteed the same privacy and security that any other medical records receive.

Validity of tests: The technology behind genetic testing is relatively new and rapidly evolving. While companies may claim that they use CLIA labs, most of the tests themselves have had no formal independent review process, such as FDA approval would offer, to verify the manufacturer’s claims to the quality of the testing process and the positive- and negative- predictive values of the tests. The FDA did, as mentioned above recently approve 23andMe to begin offering some limited testing and their approval did cite that they had reviewed the testing process for the services offered. Any DTC testing offered should have to go through a similar independent evaluation and industry standards established.

Misleading marketing: The companies that offer DTC genetic testing need to be very clear about what the data they provide really means. This means explaining concepts such as positive and negative predictive value, lifetime and relative risk in terms that the general public can understand. Before consenting to genetic testing and paying for the services, individuals need to understand what is the significance of the test results might be, how that information might be used, and who has access to that information. Companies should facilitate access to resources for users of their services and encourage follow-up with their own care providers. It is very complex subject matter. Even experts can disagree on what the significance of a lifetime risk of developing a specific cancer are. This can be seen in the constant changes regarding recommended cancer screenings given personal and family history.

When I began reading on this subject, my initial reaction was to side with the medical establishment that opposed this type of testing. Now, however, while I feel there are still areas of concern, I think the test themselves are not the issue as much as how the tests are promoted to the public and how the data is used and stored. The information gained by genetic testing is not really as empowering as the companies that promote DTC testing suggest and the changes that people can make to reduce their risk for disease are the same ones the medical community have been telling them for years and they don’t do it. The people who take these tests are likely the same people who already do take an interest in their health and have a relationship with their health care providers and will seek guidance. True, there should be standards to ensure the tests are valid and advertising should be truthful so people understand what they are paying for. Finally, there has to be clear protection of genetic information and protection against discrimination based on genetic data. Modest regulation is needed and I feel that the FDA’s recent decision to allow at least some types of DTC genetic testing beyond that related to ancestry is appropriate.

References

ACOG Committee Opinion. (June 2008) Direct-to-Consumer Marketing of Genetic Testing. American College of Obstetricians and Gynecologists. Retrieved from: http://www.acog.org/Resources-And-Publications/Committee-Opinions/Committee-on-Genetics/Direct-to-Consumer-Marketing-of-Genetic-Testing

AMA to FDA: Genetic Testing Should Be Conducted by Qualified Health Professionals. (23 Feb 2011) American Medical Association. Retrieved from: http://www.ama-assn.org/ama/pub/news/news/genetic-testing-qualified-professionals.page?

Callier, S. (April 2012) Swabbing Students: Should Universities Be Allowed to Facilitate Educational DNA Testing? American Journal of Bioethics. 12(4): 32-40. doi:10.1080/15265161.2012.656803

Edwards, K.T., Huang, C.J. (2014) Bridging the Consumer-Medical Divide: How to Regulate Direct-to-Consumer Genetic Testing. Hastings Center Report. 44(3): 17-19. doi:10.1002/hast.310

Food and Drug Administration (19 Feb 2015) FDA permits marketing of first direct-to-customer genetic carrier test for Bloom Syndrome. FDA News Release. Silver Springs, MD. Retrieved from: http://www.fda.gov/iceci/enforcementactions/warningletters/2013/ucm376296.htm

Food and Drug Administration (22 Nov 2013) Warning Letter Re: Personal Genome Services (Doc No. GEN1300666). Department of Health and Human Services. Silver Springs, MD: Public Health Service. Retrieved from: http://www.fda.gov/NewsEvents/Newsroom/PressAnnouncements/ucm435003.htm

Genetic Information Nondiscrimination Act of 2008. Pub. L. 110-233, 42 USC §2000, 122 STAT. 881 (2008). Retrieved from http://www.gpo.gov/fdsys/pkg/PLAW-110publ233/html/PLAW-110publ233.htm

Howard, H.C., Borry, P. (14 Aug 2012) To ban or nor to ban? EMBO Reports. 13(9); 791-974. DOI10.1038/embor.2012.114

Roberts, J.S., Ostergren, J. (Sept 2013) Direct-to-consumer Genetic Testing and Personal Genomics Services: A Review of Recent Empirical Studies.Current Genetic Medicine Reports. 1(3); 182-200.

Vaughn, L. (2013) Genetic Choices in Bioethics: Principles, Issues, and Cases (2nd Ed). New York, NY: Oxford University Press.

Vayena, E. (5 May 2014) Direct-to-consumer genomics on the scales of autonomy. Journal of Medical Ethics. doi: 10.1136/medethics-2014-0102026.

3 thoughts on “Direct to Consumer Genetic Testing – mostly harmless

  1. I would agree with the concern of the insurance companies using this information to limit their liability. One of the down sides of the current system involving a physician, is that the results are a part of your medical record to be used as any other part would be.
    I feel that families should have the right to scan for recessive genes and then get counselling without the expense of a third party provider just to write an order for it. Is there any difference between genetic testing and full body “wellness” MRIs?

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    1. Mike, having your genetic test results as part of your official medical record would seem to be a double -edged sword. I’m not sure I’d be comfortable with some private company holding that information indefinitely and using it as they see fit (even if it is presumably unidentified), but maybe I’ve become a bit skeptical about security and privacy this year. At least if that information was part of your health record, you would have less worry about the company going belly up and not knowing who then owns that information. I see your point though about insurance issues if it is in your chart at your doctor’s office.
      As far as the difference between genetic testing and “wellness” MRIs, the genetic testing would have less medical contraindications (don’t have to worry about metal and contrast problems) and a needle stick is likely to be better tolerated than being in a conventional MRI by most people. I think there is a big difference in the potential information from genetic testing. I’ve not done much reading on wellness MRIs but I’d guess that as with most imaging, the only value of a “normal” test means there isn’t anything wrong right now and it only screens for a specific types of abnormalities. Genetic testing hast the potential to screen for a vast number of defects that could predict future disease. One of the biggest problems at present is that our ability to detect genetic variation is outpacing our ability to prove that there is correlation to disease, but more on that in the next couple of weeks. Both MRI and genetic testing may end up with a place in screening eventually, but with different areas of focus.
      Thanks for your feedback.

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      1. I agree with the security concerns. Also have to wonder how far away are we from requiring DNA samples just as proof of identity.
        As for connecting the dots between genes and disease, more genetic mapping should increase the accuracy of pin pointing defects and the effects of the defects. This is a field that my hospital is investing in with some amazing results already.
        The next part of this is the ethical issues raised by knowing what could happen but not knowing if it will.

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