Genetic Testing for Reproductive Decision Making

Genetic testing to inform reproductive decisions was once recommended only for women/couples whose family history or medical record indicated elevated risk for a limited set of genetically mediated conditions. As procreation among individuals of diverse ancestries becomes more common and tests for more conditions become more accurate and less costly, the relevance of broad preconception, pre-implantation, or prenatal genetic screening grows stronger. Physicians may ethically provide genetic testing to inform reproductive decision making when the patient requests, but may also wish to offer broad screening to all persons who are considering having a child.

Physicians who provide reproductive health care that includes genetic testing should:

1. Adhere to standards of nondirective counseling and avoid imposing their personal moral values or judgment on the patient.
2. Discuss reasons for and against genetic testing and ethically inappropriate uses of genetic testing, such as to identify non-disease-related characteristics or traits.
3. Obtain the individual’s informed consent to the specific test or tests to be performed. Physicians should ascertain whether the person wishes to be informed about incidental findings.
4. Inform the individual about any abnormal findings for the tests ordered and discuss the severity of the associated health condition, likelihood of clinical manifestation (penetrance), age at onset, and other factors relevant to a decision about childbearing.
5. Respect an individual’s decision to terminate or continue a pregnancy when testing reveals a genetic abnormality in the fetus, in accordance with applicable law.
6. Refer the individual to another qualified physician when personal moral values prohibit the physician from providing lawful abortion services when this is a service that the person desires, in keeping with ethics guidance.