Genetic counseling: Family history interpretation and risk assessment
- Benjamin A Raby, MD, MPH
Benjamin A Raby, MD, MPH
- Section Editor — Genetics
- Associate Professor of Medicine
- Harvard Medical School
- Wendy Kohlmann, MS, CGC
Wendy Kohlmann, MS, CGC
- Licensed Genetic Counselor
- University of Utah Huntsman Cancer Institute
- Vickie Venne, MS, CGC
Vickie Venne, MS, CGC
- Licensed Genetic Counselor
- Veterans Hospital Administration
The process of genetic counseling is about sharing information in a manner useful to an individual, couple, or family. It involves obtaining the family and medical history from the patient and referring clinician, obtaining and reviewing medical records of the patient and family members, understanding the patient's perception of risk of developing a condition or recurrence of a condition, advising the patient about the advantages and disadvantages of genetic testing, assisting in choosing the most appropriate genetic test(s), and determining the implications of genetic test results and possible interventions for risk reduction, all in the context of the value system most relevant to the patient and family.
This topic provides guidelines for genetic counseling, including interpretation of the family history and assessment of risk for common adult-onset conditions.
Additional discussions about genetic testing, use of genetic information to guide drug dosing (pharmacogenomics), disclosure of incidental findings from genetic testing, and a glossary of genetics terminology are provided on the following reviews:
●Genetic testing – (See "Genetic testing".)
●Pharmacogenomics – (See "Overview of pharmacogenomics".)
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- DEFINITION OF GENETIC COUNSELING
- INDICATIONS FOR REFERRAL
- Increased risk
- Uncertainty about genetic basis
- Patient anxiety or misunderstanding about risk
- PREPARATION FOR REFERRAL
- Information to send with the referral
- Family/medical history from the referring clinician
- Educating the patient regarding expectations
- FAMILY HISTORY
- Collecting the information
- - History from the patient
- - History obtained by a clinical geneticist or genetic counselor
- CONTENT OF GENETIC COUNSELING
- Initial risk assessment
- Information and education
- Informed consent for genetic testing
- Issues that arise after a genetic test result
- Psychosocial support
- Risk modification
- RESOURCES FOR GENETIC COUNSELING
- Where to refer
- SUMMARY AND RECOMMENDATIONS