AMP reaffirms support for clinically meaningful tests
Interview by Chaunie Brusie
Following in the line of its 2007 position statement on consumer genomic testing, and a 2015 revision of that statement, the Association for Molecular Pathology (AMP) has recently issued an updated position statement that upholds the organization’s support for certain types of consumer genomic testing.1
To develop the updated position statement, an AMP working group evaluated the current landscape of consumer genomic testing and identified a number of new conditions that should be met by organizations offering genomic testing services directly to consumers. The new statement affirms AMP’s earlier definition of four categories of consumer genomic testing (clinically meaningful, business interest, ancestry, and recreational), outlines the conditions of testing that AMP supports, and defines specific types of testing for which the organization is either neutral or opposed.
To find out more about AMP’s updated position statement, CLP recently spoke to Victoria M. Pratt, PhD, FACMG, professor and director of the pharmacogenomics and molecular genetics laboratories at the Indiana University School of Medicine, and president of AMP.
CLP: What developments led AMP to decide that it was time to update its position statement on consumer genomic testing?
Victoria M. Pratt, PhD, FACMG: AMP now has more than 2,500 members, including those who are among the early adopters and users of clinical genomic testing. Our position statements are based on our collective knowledge and expertise of this rapidly developing field.
AMP routinely reviews all of its position statements. We revised our official position for all consumer genomic testing to better account for emerging technologies and privacy best practices. We included important updates to the conditions that must be met before AMP can support such testing.
CLP: In what ways did AMP’s working group find that the landscape of consumer genomic testing has changed since 2015?
Pratt: The new conditions better reflect the range of currently available technologies, highlight privacy best practices, and encourage consumers to consult with their healthcare providers before making clinical care decisions.
CLP: Why was it important to outline the four different categories of tests?
Pratt: This is a rapidly evolving field and there are now many different types of consumer genomic companies. We wanted to set the stage and outline the main types of consumer genomic testing and, at the same time, be very clear about the specific types of consumer genomic tests that we support, remain neutral about, and oppose. For example, AMP supports clinically meaningful tests that meet our list of conditions, and we remain neutral about ancestry and recreational tests. We oppose tests that provide health-related information that is not clinically valid—such as unsubstantiated claims concerning athleticism, cosmetics, diet, or exercise—as well as tests that businesses use to sell additional products and services.
CLP: What are the main changes to AMP’s position since the 2015 version of the statement?
Pratt: The results of our evaluation revealed important updates and expansions to the conditions that must be met before AMP can support such testing. The expanded set of conditions includes:
- All health-related claims must have well-established clinical validity.
- The consumer genomic testing provider must comply with the CLIA statute and regulations.2 Test validation and interpretation should be performed by board-certified molecular laboratory professionals.
- Information regarding the analytical and clinical validity of the tests should be present in all marketing materials and included in each report of results.
- The consumer genomic test report should be in lay language and describe the limitations of the test, an interpretation of the finding(s) and significance for the consumer’s health status, as well as implications for family members.
- Test providers should adhere to the Future of Privacy Forum’s “Privacy Best Practices for Consumer Genetic Testing Services.”3
- Consumer genomic testing providers should refer consumers to appropriate genetic counselors and recommend that they discuss any actionable test results with their physicians.
CLP: The position statement requires CLIA compliance, but does not distinguish testing performed with FDA-approved tests from testing that uses laboratory-developed tests. Did the working group consider this distinction important in any way?Pratt:
AMP’s updated position statement seeks to provide professional guidance for consumer genomics laboratories based on the most recent developments in the field. The updates to the statement apply equally to all consumer genomic companies, whether they perform their testing using FDA-approved tests or laboratory-developed testing procedures.
CLP: How does the new position statement reflect advances in the technologies now available to perform consumer genomic testing?
Pratt: As technology in this area advances, AMP is concerned that consumers and providers might not be aware that new testing platforms can have different characteristics and limitations. To address this, one of the updated conditions calls for the reporting of test results and the statement of limitations pertinent to the test to be in lay language. As an example, different technologies used by consumer genomic companies—single-nucleotide polymorphism (SNP) arrays, targeted genotyping, next-generation sequencing—have different limitations, failure modes, and breadths of coverage. All of these should be described so that consumers and their healthcare providers can determine the limitations of the test.
CLP: The statement emphasizes the need to communicate test results and health implications in lay language. Are you confident that laboratories have the ability to accomplish this shift?
Pratt: It’s important for patients to fully understand what these results mean. As with any test relevant to a patient’s health, we continue to strongly encourage consumers to consult with their healthcare providers and qualified genetic counselors, when appropriate, before making clinical care decisions.
CLP: The statement also identifies the need to follow privacy best practices. Where do labs currently stand in their ability to meet this need?
Pratt: Protecting the privacy of genetic information will always remain a top priority for AMP. Data privacy and sharing are important concerns for any entity in the United States performing genetic testing—regardless of whether the tests are directly marketed toward consumer. AMP expects that any relevant entity will adhere to all applicable federal and state laws regarding data privacy and sharing, including the Health Insurance Portability and Accountability Act of 1996 (HIPAA) and its associated regulations, Federal Policy for the Protection of Human Subjects (referred to as the ‘common rule’), FDA regulations, and applicable state laws.4,5
AMP’s position specifically for consumer genomic testing recommends that laboratories offering consumer-facing services adhere to the Future of Privacy Forum’s “Privacy Best Practices for Consumer Genetic Testing Services.”3 In support of AMP’s position on this topic more generally, this best practice document says, that “relevant legislation . . . may apply, and companies should reflect compliance with those and other applicable laws.”
Given that most policies pertaining to privacy and data sharing have been in place for some time, we expect that most laboratories are very comfortable in meeting those legal requirements. Additionally, AMP is pleased that quite a few entities specifically offering consumer genomic testing are committed to adhering to the other best practices outlined in the Future of Privacy Forum’s document.
CLP: The statement recommends that test providers refer consumers for genetic counseling to discuss actionable test results. Are such resources readily available now?
Pratt: Yes, absolutely. AMP strongly supports referral for genetic counseling services and the provision of educational materials to consumers of genomic testing. Test providers should offer genetic counseling or encourage genetic counseling as an additional step for the education of the consumer (and the consumer’s family, if applicable). We consider referrals to genetic counseling resources such as the National Society of Genetic Counselors’ directory or other genetic counseling contracting services to be appropriate.6
CLP: The statement mentions that the Genetic Information Nondiscrimination Act (GINA) protects consumers from health insurance discrimination, but not from discrimination related to long-term disability or life insurance.7 Has AMP taken a position on whether additional legislative protections are needed?
Pratt: AMP strongly advocated with Congress for the enactment of GINA and continues to make protections against genetic discrimination a high priority. As an example, AMP monitors any federal or state efforts that threaten to weaken the protections offered by GINA. Most recently, AMP has joined with a number of other stakeholders to defend GINA’s protections in the face of rulemaking that would allow employers to inquire about their employees’ genetic information through employer-sponsored wellness programs.
CLP: How can consumers and physicians distinguish recreational testing that can provide ‘educational opportunities’ (on which AMP takes a neutral stance) from testing used merely to sell additional products and services (and to which AMP is opposed)?
Pratt: Unfortunately, it is sometimes difficult for consumers to distinguish between recreational testing that can provide educational opportunities versus a test that is used to sell additional products. To create these categories, AMP considered companies that offer information about the consumer and require no additional purchases (such as ancestry tests) versus companies that offer information about the consumer in order to lead them to a specific product (such as tests that lead consumers to genetically tailored varieties of products, including cosmetics, unproven dietary supplements, and books, which can then be purchased through the company or a third-party).
AMP acknowledges that it is currently difficult for consumers to determine upfront what type of service companies offer. This is why the association recommends that policy mechanisms be created to ensure that marketing materials and reports clearly identify the lack of data to support health management claims, as well as the secondary business interests associated with the test.
CLP: What is AMP most wary about when it comes to consumer genomic testing and the implications that test results may have?
Pratt: As with any test relevant to a patient’s health, we continue to strongly encourage consumers to consult with their healthcare providers and qualified genetic counselors when appropriate before making clinical care decisions.
CLP: Considering the rapidly changing landscape for consumer genomic testing, when will AMP next need to reevaluate its position statement for this area?
Pratt: Our designated working groups meet regularly to discuss emerging technologies, best practices, and changes in the field. We are committed to updating all of our position statements as needed. This is the third time in the past 12 years that we’ve updated this consumer genomics position statement. We expect to make further updates as more technologies and best practices continue to emerge.
CLP: How will the outcomes of the updated position statement most benefit consumers?
Pratt: Genomic tests that are clinically meaningful can provide consumers with valuable information that can diagnose, predict, prognosticate, or otherwise reveal important health information. Our hope is that by increasing access to accurate, clinically meaningful genetic information, more patients will be motivated to make important lifestyle changes, seek professional care, and take actions that could ultimately save their lives.
Chaunie Brusie is associate editor of CLP.
- Association for Molecular Pathology Position Statement: Consumer Genomic Testing, June 2019, Rockville, Md: Association for Molecular Pathology, 2019. Available at: https://www.amp.org/amp/assets/file/position-statements/2019/amp_position_statement_consumer_genomics_final.pdf?pass=3. Accessed August 1, 2019.
- Clinical Laboratory Improvement Amendments of 1988. 42 USC 263a (PL 100-578).
- Privacy best practices for consumer genetic testing services [online]. Washington, DC: Future of Privacy Forum, 2018. Available at: https://fpf.org/2018/07/31/privacy-best-practices-for-consumer-genetic-testing-services. Accessed July 26, 2019.
- Health Insurance Portability and Accountability Act of 1996. 42 USC 300gg, 1181 et seq., and 1320d et seq. (PL 104-191).
- Protection of Human Subjects. 45 CFR 46. Available at: www.ecfr.gov/cgi-bin/retrieveecfr?gp=&sid=83cd09e1c0f5c6937cd9d7513160fc3f&pitd=20180719&n=pt45.1.46&r=part&ty=html. Accessed August 1, 2019.
- Find a genetic counselor [online]. Chicago: National Society of Genetic Counselors, 2019. Available at: www.nsgc.org/page/find-a-genetic-counselor. Accessed August 1, 2019.
- Genetic Information Nondiscrimination Act of 2008. (PL 110-233).
Genome sequence map; chromosome architecture and genetic sequencing chart abstract data. Illustration © Tartilastock courtesy Dreamstime (ID 137670913).