Genetics and Genomics in Healthcare

Genetics improves personal and public health, contributing to disease diagnosis, prevention, and treatment and informing reproductive decisions. Translating these findings to personal and public health requires policies that support their use through applications such as:

  • 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
  • Testing to inform cancer prevention and treatment

Key Issues

Use of Family Medical History

Collecting a patient’s family medical history remains the single most important and informative genetic test for most individuals. This information can help identify a genetic predisposition for disease, guide subsequent 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 the development of tools that help patients collect and share their family history with their doctors. The Society supports policies that encourage the adoption of electronic health record systems that incorporate and use 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 roles in regulating genetic tests and testing laboratories. ASHG supports oversight that assures that tests are both high-quality and evidence-based. Regulatory agencies should work together to minimize the burden of laboratory compliance with regulations.

Oversight rigor should be calibrated to the level of risk associated with the use of a test, with lower 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 about genomic variant pathogenicity, the Society supports innovative approaches for the oversight of sequencing-based tests.

Health Insurance Coverage

The potential for genetics-based tools to enhance healthcare will only be fully realized if health insurance coverage policies foster their appropriate use. Government health insurance programs and private payers should establish clear policies about the coverage of genetic tests and associated services that improve healthcare. Given the rapid pace of genetic discovery and innovation, 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 healthcare decisions is increasing the demand for qualified genetics professionals. ASHG supports the state licensure of certified genetic counselors to help the public access genetic and genomic services provided by qualified health professionals. Many health plans recognize genetic counselors are important members of the healthcare team and depend on them to help provide state-of-the art genetic services. Licensure provides genetic counselors with vital credentials to bill and seek reimbursement for services, and will expand the qualified workforce needed to provide genetic and genomic services for the growing number of patients and families that need them.

Reproductive Choice and Access to Services

It is possible to detect fetal genetic abnormalities through a number of genetic testing techniques (such as amniocentesis, chorionic villus sampling, and non-invasive prenatal screening of maternal cell-free DNA). 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.

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. Patients and providers must be able to access genetic testing that is not limited by exclusive licensing or inappropriately expensive tests.


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