Conditionally, AMP lends support to direct-to-consumer genetic testing

Interview by Steve Halasey

In the rapidly moving world of molecular diagnostics, even well-conceived policies can rapidly fall out of date. Last year, a working group from the Association for Molecular Pathology (AMP) undertook to update the association’s policy on direct-to-consumer (DTC) genetic testing, which was last addressed in a position statement of 2007.

The result, issued at the end of February, is a revised position statement in which the association now supports the use of DTC genetic testing under certain conditions.1 The new policy abandons the association’s previous position that genetic testing should only be provided through orders from appropriately qualified healthcare professionals.

Photo KleinRogerD

Roger D. Klein, MD, JD, FCAP, chair of AMP’s professional relations committee

In announcing its revised policy, AMP acknowledged that elements of the diagnostic marketplace are undergoing significant change, not the least of which was formalized by the US Department of Health and Human Services in 2014, when it announced new rules permitting patients direct access to their laboratory test results.2 To find out more about AMP’s revised policy on DTC genetic testing, CLP spoke with Roger D. Klein, MD, JD, FCAP, medical director for molecular oncology at the Cleveland Clinic, and chair of AMP’s professional relations committee.

CLP: The healthcare environment is always undergoing change. What kinds of changes have led AMP to re-evaluate its policy on DTC genetic testing?

Roger D. Klein, MD, JD, FCAP: I view AMP’s reassessment as part of a broader movement toward greater patient involvement in healthcare and the empowerment of patients. There have been a number of developments on that front. For example, last year the US Department of Health and Human Services modified regulations relating to the Health Insurance Portability and Accountability Act and the Clinical Laboratory Improvement Amendments of 1988 (CLIA) in order to provide patients with the right to have direct access to their clinical laboratory test results.

Thus, the federal government is also a part of this broader movement. It has encouraged patients to play a greater role in their care, and to assume responsibility for their own diagnostic testing. These results include genetic tests. Also, there have been a number of offerings of DTC genetic testing over the past several years, and in some ways AMP’s policy change is an acknowledgment of that reality.

In summary, AMP’s reassessment is really the result of a series of developments that have encouraged patients to play a greater role in their own care, and the association’s recognition of those developments. Finally, AMP strongly desires to help patients derive the benefits of the great advances that are occurring in genetic and genomic testing.

CLP: What influence did FDA’s enforcement actions related to 23andMe have on AMP’s reassessment, if any?

Klein: None. AMP’s policy update has nothing to do with FDA, nor any particular company. The policy change is in response to larger discussions of healthcare paradigms and dynamics, unrelated to FDA.

CLP: So the relationship between FDA’s enforcement activities over DTC genetic testing and what tests are ultimately available to consumers was not something that AMP considered when revising its policy?

Klein: Correct. FDA’s actions and proposed actions were not a part of the discussion. They were not considered in our assessment. AMP’s policy change is part of a much broader discussion and had nothing to do with anything that FDA has done or said.

CLP: The change in policy means that AMP now supports the use of DTC genetic testing for clinically meaningful purposes, but with some significant caveats about how the tests and results should be handled. Can you describe the concerns that underlie those caveats?

Klein: AMP is supportive of DTC testing, and it is the organization’s position that those tests should be performed at a level and in a manner consistent with that of other laboratory tests. A consumer who is ordering a DTC should have confidence that the test has the same quality and reliability as other clinical laboratory tests.

Essentially, we’re viewing this new area from a clinical point of view. We have set out a number of conditions that should be met, and they are essentially the same conditions that should apply to any laboratory tests. For example, there should be transparency with regard to the analytical and clinical validity of the test, including clear statements about the sensitivity, specificity, and limitations of the assay. And the test results should include clear and informative interpretations provided by a certified molecular laboratory professional. We also believe that test providers should encourage consumers to speak with genetic counselors or physicians who can answer any questions they may have. Obviously, DTC labs need to comply with CLIA, other regulations, and applicable accreditation requirements.

Basically, we’ve tried to place DTC genetic testing into a medical paradigm that incorporates the same standards of reliability, protection against harms, and maximal derivation of benefits as one would obtain with clinical testing that’s undertaken in a more traditional manner.

CLP: Should FDA play any role in assessing the clinical relevance of DTC genetic testing, or discouraging such testing when it is inappropriate?

Klein: AMP does not support an FDA role in regulating clinical laboratories. Basically, AMP has been CLIA-centric, and has proposed that the concerns of stakeholders and potential gaps in laboratory oversight should be addressed through a modernization of the CLIA regulations.

We have looked at diagnostic testing in this regard, and it was felt that patients would most benefit and innovation would be most encouraged by modernization of CLIA rather than by FDA’s imposition of a medical device regulatory paradigm. FDA’s framework would essentially designate laboratory activities as falling within the rubric of medical device manufacture. The agency would then apply medical device regulations to clinical laboratories. AMP does not support that paradigm for most molecular testing.

From AMP’s point of view, FDA’s potential involvement shouldn’t depend on the mechanism by which the test is ordered, whether it is ordered from a DTC provider, directly from a laboratory, or through a doctor’s office. AMP has supported modernization of CLIA for regulating most clinical laboratory-developed tests, but has not supported FDA regulation of such tests.

Assuming that a DTC genetic test provider adheres to the recommendations and standards that AMP has proposed—meaning, especially, that the testing model incorporates the safeguards that AMP has suggested—the organization would not treat that test differently with respect to our view on FDA regulation.

This is just a matter of being consistent with the position we’ve put forward with respect to FDA regulation of laboratory-developed tests. We’ve placed DTC genetic testing into a medical construct, and recommended safeguards and caveats so that the tests can be performed in a manner that is safe and reliable for patients. Therefore, we don’t distinguish the tests according to the means by which they were obtained. We treat them the same, so long as they adhere to the standards we’ve recommended.

CLP: You mentioned that there may be a need for some modernization of CLIA. Are there specific parts or mechanisms within CLIA that you would recommend for revision, in order to ensure that information provided to consumers is transparent and understandable?

Klein: AMP has a working group that is looking at CLIA. As an organization, we’ll be making more-specific statements with respect to how we believe CLIA can be enhanced. Starting with the statute and the regulatory structure, it will require some analysis to determine how many of our suggested paradigm changes can be accomplished under existing regulations.

For example, there has been criticism that CLIA does not explicitly require that labs provide data to demonstrate a test’s clinical validity—that is, the relationship between a biomarker and the phenotypic or clinical property of interest in the individual.

Some of the state and accreditation organizations do require such a demonstration. Laboratory directors have responsibilities that relate to this area. Various standards and lab requirements include sections that relate to clinical performance and output. And there are related requirements and duties that are imposed upon CLIA-mandated clinical consultants.

So the question would be whether a requirement to demonstrate clinical validity can be implemented under existing regulations, or whether doing so would require some modification of the rules.

It would require some study, I think, to determine whether a clinical validity requirement could be interpreted and made available through guidance documents or some other type of regulatory mechanism that doesn’t involve statutory change or even notice-and-comment rule-making. But that’s one possible approach to a concern that a number of stakeholders have raised. Other areas of stakeholder concern to be addressed might include reporting requirements and standards.

It will require an analysis of the CLIA regulations to see what portion of such changes could be implemented in the current regulatory framework, and what portion would require regulatory changes. It’s not yet clear whether AMP will undertake that analysis or will simply make recommendations. But our focus will be on recommendations for meeting perceived gaps and stakeholder concerns through the CLIA regulations.

CLP: Do you think there will be a need for new legislation, or can the changes you’re considering be accomplished by reshaping CLIA’s rules to meet the environment that now exists, nearly 30 years after CLIA was enacted?

Klein: It’s early in our analysis. We haven’t fully explored the potential for accomplishing modernization of the regulations within the existing statutory and regulatory framework. So it would be premature to speak about what approaches we might take. That being said, it is obviously faster and easier to implement changes of this nature through the route that imposes the fewest procedural and bureaucratic hurdles.

If changes can be made within the framework of the existing regulations, that would be a lot quicker. And truthfully, that method would probably provide significantly greater flexibility, and an opportunity to continue evolving in response to the really dramatic changes that are occurring right now in both technological and medical knowledge.

CLP: In the past, many have expressed concern about how individuals might respond to receiving unfavorable genetic test results. Has the availability of genetic counseling improved so that such concerns are no longer valid?

Klein: AMP has set forth a paradigm within which testing will be most beneficial to patients and will minimize the likelihood of harms due to the misinterpretation of results. But I don’t think we’re in a position to discuss the state of the genetic counseling profession. Particularly, this is something that depends on the context of demand as well.

AMP has strongly urged providers of DTC testing services to recommend that patients discuss their test results with genetic counselors and with their physicians. The providers may also provide genetic counseling information and services.

CLP: As demand for DTC genetic testing increases, will payors and providers need to meet a corresponding demand for genetic counseling?

Klein: Yes, but I don’t think that increased demand is unique to DTC testing. It’s really part and parcel of all of the new genetic and genomic testing. It’s important for patients to have access to these information resources irrespective of where they obtain their testing.

CLP: In the past, such counseling would have been provided by a primary care physician, or perhaps a specialist who understood the nature of the test and its results. Is there something different about molecular testing that a primary care provider can’t explain to patients?

Klein: Studies have shown that many providers feel uncomfortable with genetic testing and with explaining genetic testing. There’s a good reason for that. For an average generalist provider, genetic testing is typically a very small part of their daily activities. These are very smart people, but if they aren’t seeing genetic test results all the time it can take a considerable amount of reading to fully understand them.

AMP’s molecular professionals are an important source of information for some of these providers. We can provide information about testing services, about how the tests are performed, and about the meaning and implications of the test results. AMP members have tended to be resources for physicians and other ordering providers, as supposed to patients, though some members are also inclined to communicate directly with patients.

CLP: Genetic testing may be focused on a specific disease or condition that the patient is already experiencing, or may indicate a predisposition to the development of a disease or condition sometime in the future. That second group is a bit amorphous. Is that a reason that many clinicians are uncomfortable about offering counseling in this area?

Klein: If the result of a test is uninterpretable, that’s not a type of testing that AMP would support.

AMP supports clinically useful testing. The results of the testing should be meaningful and useful. We are in favor of patients learning about their own health and taking responsibility for playing a larger role in their own healthcare. And we hope to ensure that the testing services and information they receive is accurate, meaningful, beneficial, and doesn’t have harms associated with it.

If you’re talking about healthy people who are undergoing testing more or less in a screening capacity, that can still be addressed within a medical paradigm, although the issues raised can differ from those associated with testing performed for diagnostic purposes on symptomatic individuals. Healthy patients who undergo a medically useful DTC test and receive results that have medical meaning, I think, would not necessarily experience significant interpretative differences from traditionally provided tests.

Take preconception testing, for example. Family planning patients often get screened for diseases such as cystic fibrosis. Certain ethnic populations are regularly screened for a number of genetic disorders. So we have already have a history of performing genetic screening in some medical contexts, and there are already analogues for some of the kinds of testing one may expect to be offered as medically useful DTC genetic testing.

CLP: What is your hope for the advance of DTC genetic testing by the time that AMP next reviews its policies in the field?

Klein: Our hope and desire is that these services are provided within the paradigm that we have suggested, and in a matter that benefits patients and doesn’t cause harm.

We’re looking for what’s best for the patient. Because undergoing this kind of testing is really a matter of choice, and an opportunity for patients to take responsibility for their own health and healthcare—if they choose to do so.

We expect the testing to be performed well, so that as many patients as possible can benefit from new genetic and genomic discoveries and knowledge, irrespective of the source of the testing and the knowledge gained thereby.

Steve Halasey is chief editor of CLP.


  1. “Direct Access Genetic Testing (Direct to Consumer Genetic Testing)” [position statement]. Bethesda, Md: Association for Molecular Pathology, 2015; available at: Accessed March 25, 2015.
  1. “CLIA Program and HIPAA Privacy Rule; Patients’ Access to Test Reports.” 79 Federal Register 7289–7316 (February 6, 2014); available at: Accessed March 25, 2015.