Accessing Genetic Services

Genetic counseling is the process of helping people understand and adapt to the medical, psychological and familial implications of genetic contributions to disease. This process integrates risk assessment, education, and counseling. In some cases, it includes the offer of genetic testing, decision-making support, and interpretation of results. Genetic counseling is best provided by specialists with knowledge and experience in clinical genetics, such as genetic counselors, physician geneticists, and advanced practice nurses trained in genetics. Qualified genetic professionals are board certified or state licensed.

Patient Talking Points about Referral

The following points are important for you to convey in order for the patient to fully benefit from a genetic counseling appointment.

Reason for Referral

Explain the reason you are referring the patient to help to set expectations and increase the likelihood of follow-through.

• Reason for referral. Some common reasons include: follow-up on family history information, discussion of risk and preventative/screening measures, assessment of appropriateness for genetic testing, or discussion of benefits and risks of genetic testing.
• Possible benefits of seeing a genetic counselor. Some benefits include: determining if you are at increased risk, determining whether genetic testing is appropriate.
• Possible harms of not pursuing the referral. Some possible harms include: not knowing about certain disease screening or prevention services you might qualify for, continued anxiety or uncertainty of not knowing if you or others in the family (such as your children) are truly at risk or not.
• The expected outcome. Some outcomes include diagnosis, information, testing, risk assessment.

What to Expect

Review what will be covered during an appointment, and how the patient can prepare.

• Components of a genetic counseling session. This may be a long appointment (30-60 minutes), and can include:
  • Detailed medical and family history
  • Risk assessment and risk counseling
  • Addressing psychosocial issues and emotional concerns
  • Directing an in-depth consent process for genetic testing, when applicable
  • Discussing insurance coverage and cost for genetic testing, if indicated
  • Disclosing results of genetic testing, when applicable
  • Determining and communicating screening and management plans
  • Summarizing and planning for follow up
• Know that genetic testing is always optional. The appointment may or may not include genetic testing, and if it is offered, the genetic expert will discuss the benefits and risks of testing for supported decision-making.
• Be aware testing may be recommended for affected relatives first.
• How to prepare for the appointment. It can be helpful for patients to learn more about their family health history and to talk to affected family members about their interest and willingness to undergo genetic evaluation, in case that is recommended.

Logistics of Referral

• Provide names, roles and credentials of genetic professional(s) involved
• Discuss insurance coverage of genetic appointment
• Give directions and contact information
• Make a plan for how the patient will follow-up with you after the consult

Finding a Genetic Professional

General Resources

Genetic counselors, clinical geneticists, and nurse specialists in genetics may be available in your institution or you may need to contact someone elsewhere. You can find a genetic specialist through:

• National Society of Genetic Counselors (www.nsgc.org)
• American Board of Medical Genetics and Genomics (www.acmg.net)
• International Society of Nurses in Genetics (www.isong.org)

It can sometimes be challenging to find a genetic expert locally. There are opportunities available for telecounseling through academic institutions and private businesses. Often, insurance companies will pay for these services.

Reviewed June 2023