Course Authors
Within the past 12 months, Professor Mehlman reports no commercial conflicts of interest.
Estimated course time: 1 hour(s).
Albert Einstein College of Medicine – Montefiore Medical Center designates this enduring material activity for a maximum of 1.0 AMA PRA Category 1 Credit(s)™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.
In support of improving patient care, this activity has been planned and implemented by Albert Einstein College of Medicine-Montefiore Medical Center and InterMDnet. Albert Einstein College of Medicine – Montefiore Medical Center is jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team.
Upon completion of this Cyberounds®, you should be able to:
List the benefits and detriments of direct-to-consumer genetic testing
Discuss the ethical and legal problems that direct-to-consumer genetic testing may create for caregivers
Describe steps that caregivers might take to respond to these ethical and legal problems.
More than a dozen companies now sell direct-to-consumer (DTC) or, as it is sometimes called, "home" genetic testing, purporting to reveal information relevant to health and lifestyle.(1) Other companies offer only ancestry or paternity testing (e.g. www.familytreedna.com, www.dnaancestryproject.com, www.oxfordancestors.com, www.dna-worldwide.com, https://genographic.nationalgeographic.com/genographic/index.html). One company, Identigene (http://www.dnatesting.com), sells its paternity testing both by mail and as kits that can be purchased in drugstores. Still other companies provide nutritional guidance purportedly based on the results of genetic tests (e.g., http://www.mycellf.com).
In this Cyberounds®, the focus primarily is on DTC genetic testing that is intended to provide information about health and lifestyle.
The History of Marketing Health Care Directly to the Consumer
Direct-to-consumer health care -- that is, diagnostic and treatment interventions obtained by the patient without having to go through a clinician intermediary -- has a long history. During the early 19th century, many patients wanted to avoid mainstream medicine, which I described as follows in an article in the Journal of Law and Medicine:(2)
In the early 19th century, orthodox practitioners emulated Dr. Benjamin Rush, a signer of the Declaration of Independence.(3) Rush and his disciples advocated three principal remedies for whatever ailed the patient: phlebotomy or bleeding, the use of purgatives, and blistering with caustic poultices.(4) Bleeding was necessary, Rush believed, because disease resulted from "morbid excitement caused by capillary tension."(5) In fact, bleeding just served to weaken patients, often hastening or assuring their deaths. Purging was accomplished with calomel, a powder of mercury chloride, which caused a "heavy flow of saliva, bleeding gums, mouth sores, tooth loss, and an unfettered, bloody evacuation of the bowels."(6) Rather than aiding patients, it caused dehydration. Blistering simply caused pain. In the words of one historian of quackery, "Rush's medical theories were unfortunately both archaic and lethal."(7)
Rather than endure these horrors, many persons turned to so-called patent medicines, which they purchased from salesmen and through mail-order catalogues. Patent preparations appealed to the American sense of self-reliance. Sometimes they were the only treatments available to patients in remote or frontier locations who did not have access to a physician. In addition, mail-order medicines preserved privacy, enabling the patient with an embarrassing problem to avoid being seen by a doctor who might well be a social acquaintance or neighbor.
Physicians and their professional organizations responded by branding patent medicines as quackery and as a serious risk to health. These concerns, along with questions about food safety, led Congress in 1906 to enact the Pure Food and Drug Act, and the first product the government went after was indeed a patent medicine called "Cuforhedake Brane-Fude."(8) (The stuff consisted mainly of salicylic acid, so the government did not accuse it of being unable to cure headache. Instead, the case focused on the lack of anything in the product to nourish the brain.) Patent medicines eventually came to occupy a legitimate place in the health care armamentarium, becoming today's over-the-counter drugs. In fact, when Congress passed the Federal Food, Drug, and Cosmetic Act in 1936, it designated over-the-counter sale as the default status for new drugs, and required the FDA to take special action to restrict a drug to sale only by prescription.(9)
Potential Benefits from DTC Genetic Testing
Like patent medicines in the 19th century and modern over-the-counter drugs, DTC genetic testing offers certain advantages to consumers. It is generally cheaper than genetic testing obtained through a physician, in part because DTC testing dispenses for the most part with the services of physicians and genetic counselors. Mail-order genetic testing may be more accessible for people in rural or medically-underserved communities and those with mobility constraints. DTC testing also may provide a greater sense of privacy. Unlike genetic testing by one's physician, the fact that someone has sought or obtained DTC genetic testing, as well as the test results themselves, do not become part of the patient's medical record unless the patient shares them with his or her physician. For persons concerned about the risk of social stigma and genetic discrimination in insurance and employment, DTC genetic testing thus offers many of the same advantages as anonymous testing, which colleagues and I described as follows in 1996 in an article in the American Journal of Human Genetics:
It would encourage individuals to acquire important personal information at the same time that it safeguarded the information against disclosure. Anonymous testing would promote patient autonomy by making the proband the only person who could reveal identifiable test results to third parties. It would effectively eliminate concerns over unauthorized disclosure by the test provider. By avoiding automatic or unauthorized disclosure to insurers and employers, anonymous testing would reduce the potential for discrimination. It would be up to the proband to decide whether to reveal the fact that he or she had been counseled and tested, and the test results, to insurers, employers, physicians, and family members.(10)
Arguably, concerns about discrimination have been lessened as a result of the enactment of the federal Genetic Information Nondiscrimination Act, which I discussed in a previous Cyberounds®. No longer are health insurers allowed to request genetic information from persons seeking to purchase insurance, or to use genetic information obtained from tests or family histories. (As I pointed out in the earlier conference, however, GINA does not prohibit insurers from taking into consideration whether an individual has or has had a genetic disease, or from using phenotypic information obtained from physical examinations and non-genetic lab tests.)
But people still may be concerned about the confidentiality of information from genetic tests performed by their physicians and placed in their medical records. Under the Health Insurance Portability and Accountability Act (HIPAA), medical records may be shared among an individual's clinicians and given to health insurers for claims administration purposes. Indeed, a major impetus for shifting the health care system to electronic medical records is the ease with which individual health care information in electronic form can be accessed by care givers. Individuals may blanch at the possibility that genetic information that becomes part of their medical record may be available to virtually anyone who works in a health care system where they obtain care, and they may turn to DTC companies in an effort to maintain greater control over the information.
How confidential is information from DTC genetic tests? The testing companies have privacy policies in which they state their intention not to let anyone outside the company see test information linked to a specific individual without the individual's permission, and although DTC genetic testing companies do not appear to be covered by the privacy protections of HIPAA, such as they are, some companies claim to be "HIPAA-compliant."(11) It is unclear how easy is it for an outsider to discover the identity of the person who was tested, and how well the security systems employed by the companies work.
Ironically, despite all of the concern over genetic privacy, some DTC genetic testing companies are touting the ability of their customers to share their genetic information with others. 23andMe, for example, states: "Seeing your own genetics is just the beginning of the 23andMe experience. Our features also give you the ability to share and compare yourself to family, friends and people around the world."(12) The company website goes on to urge people to "add some excitement at your family reunion" by "track[ing] the inheritance of specific genes in your family," having siblings "see which parts of their parents' DNA they share, and which they don't," and letting grandchildren "find out which genes they inherited from each grandparent."(13) As a publicity stunt, 23andMe even hosted a "spit party" in Manhattan attended by such celebrities as Rupert Murdoch, film executive Harvey Weinstein, and fashion designer Diane von Furstenberg. As reported by the New York Times, participants spit into sample collection bottles and looked forward to using their genomes "as a basis for social networking."(14)
Concerns About DTC Genetic Testing
Despite the possible benefits from DTC genetic testing, the practice has come in for substantial criticism. Aside from concerns about the confidentiality of identifiable information, critics complain about the validity of the tests and the difficulties of interpreting the results. 23andMe, for example, offers tests for 107 conditions and traits. (See https://www.23andme.com/health/all/ for a complete list.) The company calls 28 of the tests "clinical reports," which refers to "conditions and traits for which there are genetic associations supported by multiple, large, peer-reviewed studies," and that also have "a substantial influence on a person's chances of developing the disease or having the trait."(15) These tests include BRCA cancer mutations, Crohn's disease, cystic fibrosis, hemochromatosis, prostate cancer, Parkinson's disease, and type 1 and 2 diabetes.
The company calls the remaining 79 tests "research reports," and describes them as "information from research that has not yet gained enough scientific consensus to be included in our Clinical Reports. This research is generally based on high-quality but limited scientific evidence." The company also classifies as research reports "scientifically accepted, established research that does not have a dramatic influence on a person's risk for a disease." The conditions covered by these tests include such non-disease traits as "avoidance of errors," "breastfeeding and IQ," "measures of intelligence," and "memory," as well as diseases such as asthma, brain aneurysm, lung cancer, ands ulcerative colitis. Some companies, such as Navigenics, only test for conditions which, they claim, bear directly on health.
Clearly there are different views on the validity and utility of various genetic tests. One would think that the government would play some role in assuring that only appropriate genetic tests were sold to consumers. The Food and Drug Administration (FDA) does require manufacturers of some home tests to obtain agency approval before the tests can be marketed, but this only applies to what are called "home test kits," which enable the user to obtain test results without sending a biological sample to a laboratory. (Examples of FDA-approved home test kits are tests for cholesterol, illicit drugs, fecal occult blood, glucose, hepatitis, HIV, menopause, ovulation, pregnancy, prothrombin time, and vaginal pH.)(16)
When the test sample must be sent to a laboratory for analysis, however, there may be no requirement of FDA approval for the test itself. (Government regulation of medical testing is complicated. The FDA enforces standards for the chemical reagents and equipment used by laboratories, and also establishes the "complexity" level for different tests. The Centers for Medicare and Medicaid Services (CMS) implements the requirements of the Clinical Laboratory Improvement Act, which sets standards for laboratory personnel and performance. These standards become stricter depending on the complexity classification of the tests that the laboratory performs. The FDA has the authority to review and approve tests that are sold to laboratories as complete "kits," but not tests that a laboratory has developed itself, using standard reagents and equipment.) The FDA has reviewed and approved only a handful of genetic tests, and purchasers of DTC tests are not likely to know which ones.
The Federal Trade Commission (FTC) is another government agency that is supposed to protect consumers from businesses that make false or misleading claims. In 2006, the FTC issued a warning to consumers about DTC genetic tests. In addition to explaining the limited ability of genetic testing in general to determine an individual's susceptibility to disease, the FTC advised consumers to be especially wary of claims about at-home testing. According to the commission, the FDA and the Centers for Disease Control and Prevention (CDC), which also plays a role in regulating medical tests, are not aware "of any valid studies that prove these tests give accurate results," and these agencies advise that, "because of the complexities involved in both the testing and the interpretation of the results, genetic tests should be performed in a specialized laboratory, and the results should be interpreted by a doctor or trained counselor who understands the value of genetic testing for a particular situation.(17)
Some states also attempt to regulate DTC genetic testing. A 2007 survey by the Genetics and Public Policy Center at Johns Hopkins University reported that only 25 states and the District of Columbia allowed the marketing of DTC genetic testing; 13 states prohibit it explicitly; and the remaining 12 may prohibit it indirectly.(18) In April 2008, the New York State Department of Health sent cease-and-desist letters to Navigenics, 23andMe, and 21 other DTC testing companies, ordering them to stop selling their tests in New York unless they obtained a permit from the state.(19) In June 2008, the California Department of Public Health followed suit, issuing cease-and-desist orders to 13 companies.(20) In addition to requiring the companies to obtain a state license to furnish clinical laboratory services, the California state regulators warned that state law required residents to obtain genetic tests through a physician.(21) At least one DTC genetic testing company, DNA Direct, was notified by the California Department of Public Health that it was in compliance with state law.(22)
One of the main concerns about DTC genetic testing is the difficulty consumers may have in interpreting the test results. The companies issue results on-line, in the form of charts and tables purporting to explain whether, compared with the general population, the individual is at increased or decreased risk for the conditions and traits for which they have been tested. Making sense of a large number of these comparisons is challenging, to say the least. The problem may be exacerbated if the results do not include information about the prevalence of the condition in the wider population. It is one thing to learn that, due to your genes, you have a 25% higher risk of suffering from a certain disease than others; it is another matter if the disease only affects only 1 out of a million people, rather than 1 out of 100.
Moreover, the tests invariably reveal increased and decreased risks for different disorders. Assuming there is something individuals can do to reduce their risk, which risks should they focus on? All of them? And what preventive steps are warranted? Should someone who is told that they have a 10 percent greater risk of breast cancer obtain a prophylactic mastectomy? On the other hand, should someone told that they have a reduced risk of lung cancer start smoking?
Consumers of DTC genetic testing might have it somewhat easier if they received expert guidance in interpreting their test results. But none of the on-line testing companies requires the test results to be delivered by a physician, geneticist, or genetic counselor, although at least one company (DNA Direct), requires customers to speak with a counselor before ordering tests and gives them access to an on-line genetic specialist at no extra cost after they receive their test results.(23) Another company, LabSafe, permits its customers to consult a staff physician by telephone at a cost of $75 for 15 minutes.(24) Commentators also worry that company counselors who discuss testing with consumers before the tests are ordered may steer them towards making especially expensive purchases.(25)
How do the testing companies justify the risk of confusing and misleading consumers? The answer is that they all disclaim that they are giving health advice. 23andMe, for example, states in its online consent document that "accessing your genetic information through 23andMe does not translate into a personal prediction"; that the information "should not be used to estimate your overall risk of future disease"; that its services are "not a test or kit designed to diagnose disease or medical conditions," nor are they intended to be medical advice"; and that "you should not change your health behaviors on the basis of this information."(26) But if customers took all these disclaimers seriously, what would be the point of spending between $300 and $1200 to obtain DTC genetic testing?
In 2006, the U.S. Government Accountability Office (GAO) issued a report on DTC sites that provided "nutragenetic" testing, that is, genetic tests that supposedly yield recommendations about nutrition and lifestyle.(27) Like 23andMe, the four websites that were investigated all stressed that they do not provide information intended to diagnose or treat any disease or disorder. Yet all of the test results obtained by the investigators contained "predictions that a consumer may interpret as a diagnosis," including that the consumers were at risk for osteoporosis, high blood pressure, type 2 diabetes, heart disease, a reduced ability to clear toxins, brain aging, and cancer.(28) Furthermore, the nutrition and lifestyle recommendations that supposedly were based on the results of the genetic tests were in fact based on the results of fictitious information provided by the investigators on questionnaires that were submitted as part of the testing process. To add insult to injury, two of the four sites recommended that the consumer buy expensive, "personalized" dietary supplements from them, at a cost of $1200 a year in one case and $1880 a year in the other. The investigators purchased and analyzed some of the supplements, and found that their ingredients essentially were multivitamins that could be purchased in a supermarket for about $35 a year. Far from being "personalized," moreover, each of the three fictitious consumers that the investigators created for each of the websites were told to purchase the same product, despite the fact that the DNA samples that were sent to the companies came from two different donors, and each had a different lifestyle profile described in their questionnaires.(29)
Some DTC genetic testing companies require consumers to agree to allow them to use test results for research purposes. As noted earlier, although the companies promise that, unless the consumer agrees otherwise, researchers will be given access only to de-identified information, consumers must take the company's word that their coding and security systems would withstand an attempt to link test results to specific individuals. In addition, consumers may be told that the company is entitled to use the research to develop commercial products and services, and that they should not expect to receive any financial benefit.
Professional Acceptance of DTC Genetic Testing
All of these criticisms of DTC genetic testing have led some professional medical groups to declare their opposition to the practice. In 2004, the American College of Medical Genetics issued a policy statement describing DTC genetic testing as "potentially harmful" and declaring that "genetic testing should be provided to the public only through the services of an appropriately qualified health care professional."(30) In June 2008, the House of Delegates of the American Medical Association adopted a similar policy statement that also called for the Federal Trade Commission to increase its oversight of DTC genetic testing companies.(31)
The position of the American Society for Human Genetics, however, is more nuanced, and considers the benefits as well as the risks of DTC genetic testing:
Potential benefits of DTC testing include increased consumer awareness of and access to testing. In the current environment, consumers are at risk of harm from DTC testing if testing is performed by laboratories that are not of high quality, if tests lack adequate analytic or clinical validity, if claims made about tests are false or misleading, and if inadequate information and counseling are provided to permit the consumer to make an informed decision about whether testing is appropriate and about what actions to take on the basis of test results.(32)
In the same way that historic objections to patent medicines might be seen, at least in part, as an effort by physicians to avoid competition from unlicensed salespersons and commercial drug manufacturers, so too condemnations of DTC genetic testing by physicians, geneticists, and genetic counselors may strike some as self-serving attempts by medical professionals to protect their turf. This view is reinforced by studies showing that primary care physicians are not well-informed about genetics and genetic testing.(33) One survey found that only 13 percent of internists, 21 percent of OB/GYNs, and 40 percent of oncologists correctly answered questions about the genetic aspects of breast cancer and breast cancer testing.(34) If this holds true, it is unclear how much better off patients would be if they obtained genetic testing through their primary care physicians, unless the physician had specialized training in genetics.
Implications for Clinicians
What impact does DTC genetic testing have for clinicians, and in particular, for primary care physicians?
Clinicians can expect patients to bring them DTC results for help in interpretation and in determining what actions, if any, to take in response. Indeed, the Federal Trade Commission encourages patients to do so, advising consumers to "ask your doctor or genetic counselor to help you understand your test results" and to "discuss the results of your test with your doctor or healthcare practitioner before making dietary or other health-related decisions."(35) This means that physicians must educate themselves about the meaning of the tests, including both their strengths and weaknesses as predictive or diagnostic tools, or refer patients to persons with greater expertise.
There are no reported cases yet in which physicians have been sued for giving incorrect or inadequate information to patients about DTC tests or test results; indeed, there are no reported cases at all involving DTC genetic testing. But there are a number of cases in which physicians have been sued successfully for failing to provide parents with genetic testing so that they could avoid giving birth to a child with a genetic condition. These are called "wrongful birth" cases, and are distinguishable from pre-natal harm cases, in which parents claim that clinician negligence caused the birth of an impaired rather than a healthy child, and from "wrongful life" cases, which are brought on behalf of the child rather than the parents and in which the child claims that, but for the clinician's negligence, the child would not have been born at all, and, therefore, in this situation, would not suffer from a genetic disorder.
An example of a wrongful birth case involving negligent genetic testing is Gallagher v. Duke University.(36) Mrs. Gallagher gave birth to a daughter, Jennifer, who died three weeks after she was born due to severe birth defects. A cytogeneticist at Duke University, where the child was taken for treatment, performed a chromosomal analysis and incorrectly concluded that her condition was not due to a genetic abnormality. Interested in having another child, the Gallaghers were told they were not at a heightened risk for genetic disorders and did not need genetic testing. A second child was born with similar birth defects as the first child. Only then did the cytogeneticist discover that the condition was hereditary.
Another case arising out of negligent genetic testing was Leninger v. Eisenbaum.(37) After a child was born blind, physicians diagnosed the condition as congenital optic nerve hypoplasia and told the parents that the condition was not genetic. A second child was also born blind, and both children were subsequently diagnosed with Leber's congenital amaurosis, a recessive genetic disorder.
Two other cases involve the failure to warn patients or their children about a heritable condition. In the first, Pate v. Threlkel(38) the patient was treated for medullary thyroid carcinoma. Three years later, her adult daughter was diagnosed with the same condition. The daughter sued her mother's physicians for failing to alert her mother to the fact that her condition was heritable, claiming that, had her mother known this, she would have had her children tested for the disease at a point where her daughter's cancer might have been curable.
In the second case, Safer v. Pack(39), a father was treated for and eventually died of colon cancer. Twenty-six years later, his daughter developed colon cancer and multiple polyposis. It turned out that the father's medical records revealed that he too had had multiple polyposis, but his doctor had warned neither him nor his children that this was a hereditary condition. The daughter sued, claiming that she had been deprived of the option of obtaining a prophylactic colectomy. The court held that the doctor could be faulted for failing to warn the children, and allowed the case to proceed to trial. What is extraordinary about the case is the amount of time that elapsed between the father's relationship with his doctor and the daughter's illness. Indeed, the doctor himself had died when she was a child, and the suit was brought against his estate.
These cases demonstrate that clinicians must be careful how they respond to patient requests for help in understanding DTC test results. On the one hand, they must be cautious about reading too much into the results of DTC tests, especially tests that have not been validated. On the other hand, clinicians must avoid dismissing too readily the possibility that the results indicate that the patient or the patient's children may be at risk for a serious disorder. The clinician's task is likely to be made more difficult if the DTC testing company reports test results in an overly complicated or confusing fashion. One can only hope that judges and juries understand the difficulties that clinicians face and do not hold them to an unrealistic standard.
There is some comfort in this regard from a 1989 case Munro v. Regents of the University of California.(40) After a couple's family history revealed that they were not of Jewish descent, a physician to whom they were referred for genetic counseling and testing did not perform a test for Tay-Sachs disease. A child subsequently was born with the disease. It turned out that the father's maternal great-grandparents were French Canadian, and that the physician knew that there is a small community in French Canada that is at a somewhat elevated risk for Tay-Sachs. (The incidence of non-Jewish carriers of the Tay-Sachs mutation is between 1 in 200 and 1 in 300; between 1 in 160,000 and 1 in 360,000 non-Jewish persons is affected with the disease.)(41) The parents sued the physician, claiming that she should have informed them of the existence of this community so that they could have investigated whether they were of French-Canadian descent and obtained Tay-Sachs genetic testing. The court dismissed the complaint on the ground that the risk that the parents would be descendants of that community was too remote to expect the doctor to have disclosed it to them.
Another issue that clinicians must be prepared to confront is whether they should inform patients of the availability of DTC genetic testing in cases where genetic testing is appropriate, or when patients request genetic testing. Given that DTC testing has certain advantages, mentioned earlier, the clinician must consider whether the patient should be told about this option and allowed to determine if the potential benefits outweigh the risks. Both the American Society for Human Genetics and the Federal Trade Commission, in their positions on DTC genetic testing, leave open the possibility that certain DTC tests, if selected and interpreted with the aid of the patient's physician, might be worthwhile in some circumstances.