Genetic assessment and testing improve personal and public health by contributing to disease diagnosis, prevention, and treatment, and by informing reproductive decisions. Applications of genetic testing include determining the risk of passing on a disease to one’s children; diagnosing genetic diseases in fetuses, newborns, children, and adults; diagnostic testing to guide the administration of drugs; assessing individuals’ risk of future disease; and testing to inform cancer prevention and treatment. The successful translation of knowledge about the human genome to personal and public health depends on having a policy framework that fosters its appropriate application. 

Key Issues

Promotion of the Use of Family Medical History
Collecting an informed analysis of a patient’s family medical history remains the single most important and informative genetic test for the majority of individuals. Such information can help identify a genetic predisposition for disease, guide subsequent genetic testing, and inform prevention strategies to maintain health. ASHG supports the funding of initiatives to foster the clinical use of family history, such as educating healthcare providers and the public about its value and providing tools for patients to collect and share their family history with their healthcare providers. The Society supports policies incentivizing the adoption of electronic health record systems that facilitate the incorporation and use of family history. 

Oversight of Genetic Testing
The Food and Drug Administration, the Centers for Medicare and Medicaid Services, and the Federal Trade Commission all play a role in regulating genetic tests and testing laboratories. ASHG supports oversight that assures that tests are high quality and ensures that claims made about tests are evidence-based. Regulatory agencies should work together to minimize the burden of laboratory compliance with regulations. The rigor of oversight of tests should be calibrated to the level of risk associated with use of the test, with a lower level of oversight for lower-risk tests. The regulatory burden should also be lower for research laboratories offering low-volume tests that are not commercially available. Given the complexity and volume of data generated, and the rapidly evolving evidence base regarding the pathogenicity of genomic variants, the Society supports innovative approaches for the oversight of sequencing-based tests.

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Health insurance coverage for genetic testing
The potential for healthcare to be enhanced by the integration of genetics-based tools will only be fully realized if health insurance coverage policies are in place to foster their appropriate use. Government health insurance programs and private payers should establish clear policies covering the use of genetic tests that improve healthcare, as well as coverage of the associated services. Given the rapid pace of discovery and innovation in genetics, these policies should allow for the adoption of new tests emerging from novel technologies, advances in our understanding of the relationship between genetic variation and disease, and research demonstrating the clinical utility of a new test in patient care.

Licensing of Genetic Counselors
The rapidly expanding role of genomics in many healthcare decisions is already increasing the demand for qualified genetics professionals. ASHG supports the state licensure of certified genetic counselors to help ensure that the public has access to genetic and genomic services provided by qualified health professionals. Many health plans recognize genetic counselors as important members of the healthcare team and depend on them to help ensure provision of state-of-the art genetic services. Licensure provides genetic counselors with the credentials needed for the billing and reimbursement of their services, and is a step that will ensure that the healthcare system has a qualified workforce to provide genetic and genomic services for the growing number of patients and families that need them.

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Reproductive Choice and Access to Services
Through a number of genetic testing techniques (such as amniocentesis, chorionic villus sampling, and non-invasive prenatal screening of maternal cell-free DNA), it is possible to detect fetal genetic abnormalities. This ability empowers parents to make informed reproductive decisions. The Society supports the right of women to terminate a pregnancy in which a fetus is diagnosed with, or is at significant risk of having, a serious genetic or congenital disorder. ASHG opposes laws that prohibit women from exercising this choice or that limit their access to reproductive services.

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Intellectual Property
ASHG supports the judicious protection of intellectual property to promote genetics research and the development of healthcare applications. The Society opposes the patenting of naturally occurring genetic material. It is critical to patients and providers that access to genetic testing not be limited as a result of exclusivity of licensing or the inappropriately exorbitant cost of tests.

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Please contact us at policy@ashg.org to give us your feedback on ASHG’s policy and advocacy work.