As members of a healthcare team, genetic counselors provide information and support tofamilies affected by or at risk for a genetic disorder. They serve as a central resourceof information about genetic disorders for other healthcare professionals, patients, andthe general public. This chapter provides an overview of the role of genetic counselorsand their approach to educating patients and identifying individuals/families at risk ofa genetic disorder. Patient resources are also provided.
5.1 Role of Genetic Counseling
Genetic counselors help identify families at possible risk of a genetic condition bygathering and analyzing family history and inheritance patterns and calculatingchances of recurrence. They provide information about genetic testing and relatedprocedures. They are trained to present complex and difficult-to-comprehendinformation about genetic risks, testing, and diagnosis to families and patients.Genetic counselors can help families understand the significance of geneticconditions in relation to cultural, personal, and familial contexts. They alsodiscuss available options and can provide referrals to educational services,advocacy and support groups, other health professionals, and community or stateservices. Genetic counselors can serve as a central resource of information aboutgenetic conditions for other healthcare professionals, patients, and the generalpublic. (See Appendix Ofor Making Sense of Your Genes: A Guide to GeneticCounseling.)
5.2 Process of Genetic Counseling
In general, a genetic counseling session aims to:
Increase the family’s understanding of a genetic condition •Discuss options regarding disease management and the risks and benefits offurther testing and other options
Help the individual and family identify the psychosocial tools required tocope with potential outcomes
Reduce the family’s anxiety
It is not unusual for multiple genetic counseling sessions to occur and, at aminimum, to include a pre-testing and post-testing session. During the initialgenetic counseling visit, the genetic counselor will determine why thepatient/family is seeking genetic counseling, identify what information they wish toobtain from the session, collect and record a family medical history, and assess andrecord the medical and psychosocial history of the patient.
Among the topics that may be discussed during a pre-testing session are the clinicalpresentation of the condition(s) the patient may be at risk for, pattern of geneticinheritance of the condition, chance of recurrence, available testing procedures andtest limitations, reproductive options, and follow-up procedures, if needed. Generalquestions relating to suggested treatment or therapy are also addressed. Referralsmay be made to specialists regarding specific issues that fall outside the scope ofgenetic counseling practice.
If the patient decides to have genetic testing performed, the genetic counselor oftenacts as the point person to communicate the results. However, the post-test sessioninvolves more than the provision of medical information and often focuses on helpingfamilies cope with the emotional, psychological, medical, social, and economicconsequences of the test results. In particular, psychological issues such asdenial, anxiety, anger, grief, guilt, or blame are addressed, and, when necessary,referrals for in-depth psychosocial counseling are offered. Information aboutcommunity resources and support groups can be provided to the patient/family.
If the genetic test is positive, testing may be considered for additional relativesof the individual. Genetic counseling referrals for other family members for riskassessment may be discussed. It may be necessary to refer relatives to other geneticcounselors due to geographical and other constraints.
At the conclusion of the final genetic counseling session, the patient may receive awritten summary of the major topics discussed. The summary is often provided in theform of a letter, which serves as a permanent record of the information discussedand can include additional information that became available after the finalcounseling session. The patient may choose to share the letter with other familymembers or healthcare providers.
5.3 Patient Education
Many patients rely heavily on their primary healthcare providers for informationrelated to their condition. In general, though, patients will require informationproviders may not have. Before providing patients with any educational materials,providers should be sure to check that the information is current and produced by acredible source.
Books and pamphlets are appreciated by patients, even those who are web-savvy.Patient advocacy groups generally provide the best and most up-to-date information.The organizations listed on the following page are excellent sources of informationabout genetic diseases that can be helpful to patients.
Genetic Alliance
4301 Connecticut Avenue, NW, Suite 404
Washington, DC 20008
Ph: 202.966.5557
Fax: 202.966.8553
Email: info@geneticalliance.org
Genetic and Rare Diseases Information Center (GARD)
P.O. Box 8126
Gaithersburg, MD 20898
Ph: 888.205.2311
TTY: 888.205.3223
Fax: 240.632.9164
Email: GARDinfo@nih.gov
Genetics Home Reference
Reference and Web Services
National Library of Medicine
8600 Rockville Pike
Bethesda, MD 20894
Ph: 888.346.3656
Fax: 301.496.2809
Email: custserv@nlm.nih.gov
National Organization of Rare Diseases (NORD)
55 Kenosia Avenue, P.O. Box 1968
Danbury, CT 06813
Ph: 203.744.0100
TTY: 203.797.9590
Fax: 203.798.2291
Email: orphan@rarediseases.org
Selected References
American College of Medical Genetics, NewbornScreening Act Sheets and Confirmatory Algorithms www
.acmg.net/resources /policies/act/condition-analyte-links .htm. Genetic Alliance Disease InfoSearch www
.geneticalliance.org/dis. International Society of Nurses in Genetics www
.isong.org. March of Dimes www
.marchofdimes.com (Spanishat www .nacersano.org) MedlinePluswww
.nlm.nih.gov/medlineplus. National Human Genome ResearchInstitute–Health www
.genome.gov/health. National Society of Genetic Counselors (NSGC) www
.nsgc.org. [PubMed: 12735296]
