Growing consumer awareness and the increasing availability of genetic tests for many conditions is likely increasing the number of questions your patients are asking about their risk of disease, the risk to their offspring and whether genetic testing is right for them. Genetic counselors can help you address your patients’ needs and incorporate genetics and genomics into your practice.
1. What is ART/Infertility genetics?
The ART/Infertility genetics specialty focuses on genetic causes of male or female factor infertility and genetic technologies in assisted reproduction, such as preimplantation genetic diagnosis (PGD). Genetic counselors that specialize in this area of genetics also provide family history risk assessment for prospective gamete donors or persons utilizing ART as well as interpretation of positive genetic test results.
2. Who should I refer to an ART/Infertility genetic counselor?
Patients who could benefit from genetic counseling services include:
- Males with severe oligospermia or non-obstructive azoospermia
- Males with congenital absence of the vas deferens
- Females with primary ovarian insufficiency (formerly referred to as premature ovarian failure) or early menopause
- Anyone interested in preimplantation genetic testing for aneuploidy and/or single gene disorders
- Any patient presenting for preconception counseling who is a carrier of a genetic disease or has a personal or family history of genetic disease, birth defect, mental retardation, autism
- Any patient considering genetic testing
- Anyone interested in assessing their family history for possible genetic risks or test recommendations prior to pregnancy
- Discussion with intended parent with questions about their donor risk assessment if desired
3. What benefit does an ART/Infertility genetic counselor provide to my patients?
Having a genetic counselor thoroughly review and interpret the family medical history helps ensure that couples using ART have appropriate genetic testing prior to their cycle. This enables them to consider PGD when indicated. The genetic counselor can also provide health information about a gamete donor and interpret potential risks to offspring through the use of family history risk assessment. A genetic counseling session provides patients with an explanation of how certain genetic changes may be associated with their infertility, education about using assisted reproductive technologies to lessen genetic risks to offspring, and psychosocial support for patients coping with reproductive implications of genetic test results.
Genetic risk assessment services typically include:
- 3 generation pedigree for the patient or gamete donor
- Research about specific conditions/ testing
- Pedigree analysis/ risk assessment
- Genetic screening recommendations indicated by ethnicity/ancestry or family history
- Genetic test result interpretation
- Communication of test results
- Recommendation for further studies as indicated by test results
- Summary letter for clinic, patient or donor reference
- Discussion with intended parent with questions about their donor risk assessment, if desired
4. What evidence is there to recommend or support genetic counseling in ART/Infertility genetics?
Numerous professional organizations make recommendations to include a medical professional trained in genetics, such as a genetic counselor, in the genetic testing decision making process. Organizations which have statements on genetic testing include:
- American Congress (formerly College) of Obstetricians and Gynecologists
- American College of Medical Genetics (ACMG)
- American Society for Human Genetics
- National Society of Genetic Counselors
- Preimplanation Genetic Diagnosis International Society (PGDIS)
- American Society for Reproductive Medicine (ASRM)
- Additionally, ACMG has published a practice guideline regarding appropriate indications for referral to a medical genetics professional.
- National Society of Genetic Counselors Position Statement: Preconception/Prenatal Genetic Screening. Accessible at http://www.nsgc.org/ (2005).
5. What do I tell my patient about a referral to ART/Infertility genetic specialist?
A typical genetic counseling session will include review of at least three generations of family history, discussion of the genetic condition(s) of interest, and in depth informed consent for any genetic testing being considered. The genetic counselor will assist the patient in understanding the complexities of genetic testing, including limitations and benefits, and how results may impact not only themselves and their reproductive decision making, but also their family members. Consultations may last anywhere from half an hour to over two hours depending on the breadth and depth of the discussion, and the number of questions your patient has.
6. Where can I find a genetic counselor specializing in ART/Infertility genetics?
Search the NSGC Find a Genetic Counselor Directory