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".)
- National Society of Genetic Counselors' Definition Task Force, Resta R, Biesecker BB, et al. A new definition of Genetic Counseling: National Society of Genetic Counselors' Task Force report. J Genet Couns 2006; 15:77.
- Scheuner MT, Wang SJ, Raffel LJ, et al. Family history: a comprehensive genetic risk assessment method for the chronic conditions of adulthood. Am J Med Genet 1997; 71:315.
- Fuchs CS, Giovannucci EL, Colditz GA, et al. A prospective study of family history and the risk of colorectal cancer. N Engl J Med 1994; 331:1669.
- Burt RW, DiSario JA, Cannon-Albright L. Genetics of colon cancer: impact of inheritance on colon cancer risk. Annu Rev Med 1995; 46:371.
- Frezzo TM, Rubinstein WS, Dunham D, Ormond KE. The genetic family history as a risk assessment tool in internal medicine. Genet Med 2003; 5:84.
- Hunt SC, Gwinn M, Adams TD. Family history assessment: strategies for prevention of cardiovascular disease. Am J Prev Med 2003; 24:136.
- Febbraro T, Robison K, Wilbur JS, et al. Adherence patterns to National Comprehensive Cancer Network (NCCN) guidelines for referral to cancer genetic professionals. Gynecol Oncol 2015; 138:109.
- Suther S, Goodson P. Barriers to the provision of genetic services by primary care physicians: a systematic review of the literature. Genet Med 2003; 5:70.
- Nee LE. Genetic counseling and presenilin-1 Alzheimer's disease: "Research Family" members share some thoughts. Am J Alzheimers Dis Other Demen 2007; 22:99.
- Pilarski R. Risk perception among women at risk for hereditary breast and ovarian cancer. J Genet Couns 2009; 18:303.
- Metcalfe A, Werrett J, Burgess L, Clifford C. Psychosocial impact of the lack of information given at referral about familial risk for cancer. Psychooncology 2007; 16:458.
- Guttmacher AE, Porteous ME, McInerney JD. Educating health-care professionals about genetics and genomics. Nat Rev Genet 2007; 8:151.
- Hulse NC, Ranade-Kharkar P, Post H, et al. Development and early usage patterns of a consumer-facing family health history tool. AMIA Annu Symp Proc 2011; 2011:578.
- Valdez R, Yoon PW, Qureshi N, et al. Family history in public health practice: a genomic tool for disease prevention and health promotion. Annu Rev Public Health 2010; 31:69.
- Scheuner MT, de Vries H, Kim B, et al. Are electronic health records ready for genomic medicine? Genet Med 2009; 11:510.
- Medalie JH, Zyzanski SJ, Langa D, Stange KC. The family in family practice: is it a reality? J Fam Pract 1998; 46:390.
- Kaphingst KA, Goodman M, Pandya C, et al. Factors affecting frequency of communication about family health history with family members and doctors in a medically underserved population. Patient Educ Couns 2012; 88:291.
- Grover S, Stoffel EM, Bussone L, et al. Physician assessment of family cancer history and referral for genetic evaluation in colorectal cancer patients. Clin Gastroenterol Hepatol 2004; 2:813.
- Tyler CV Jr, Snyder CW. Cancer risk assessment: examining the family physician's role. J Am Board Fam Med 2006; 19:468.
- Weitzel JN, Lagos VI, Cullinane CA, et al. Limited family structure and BRCA gene mutation status in single cases of breast cancer. JAMA 2007; 297:2587.
- Bellis MA, Hughes K, Hughes S, Ashton JR. Measuring paternal discrepancy and its public health consequences. J Epidemiol Community Health 2005; 59:749.
- Kapurubandara S, Melov S, Shalou E, Alahakoon I. Consanguinity and associated perinatal outcomes, including stillbirth. Aust N Z J Obstet Gynaecol 2016; 56:599.
- Berg AO, Baird MA, Botkin JR, et al. National Institutes of Health State-of-the-Science Conference Statement: Family History and Improving Health. Ann Intern Med 2009; 151:872.
- Acheson LS, Wang C, Zyzanski SJ, et al. Family history and perceptions about risk and prevention for chronic diseases in primary care: a report from the family healthware impact trial. Genet Med 2010; 12:212.
- Hall R, Saukko PM, Evans PH, et al. Assessing family history of heart disease in primary care consultations: a qualitative study. Fam Pract 2007; 24:435.
- Emery JD, Reid G, Prevost AT, et al. Development and validation of a family history screening questionnaire in Australian primary care. Ann Fam Med 2014; 12:241.
- Mouchawar J, Laurion S, Ritzwoller DP, et al. Assessing controversial direct-to-consumer advertising for hereditary breast cancer testing: reactions from women and their physicians in a managed care organization. Am J Manag Care 2005; 11:601.
- Bennett RL, French KS, Resta RG, Doyle DL. Standardized human pedigree nomenclature: update and assessment of the recommendations of the National Society of Genetic Counselors. J Genet Couns 2008; 17:424.
- Venne VL, Scheuner MT. Securing and Documenting Cancer Family History in the Age of the Electronic Medical Record. Surg Oncol Clin N Am 2015; 24:639.
- US Department of Health, Education, and Welfare. The Institutional Guide to DHEW Policy on Protection of Human Subjects. GPO; US Department of Health, Education, and Welfare, Washington, DC 1971.
- Wilson BJ, Qureshi N, Santaguida P, et al. Systematic review: family history in risk assessment for common diseases. Ann Intern Med 2009; 151:878.
- Claassen L, Henneman L, Janssens AC, et al. Using family history information to promote healthy lifestyles and prevent diseases; a discussion of the evidence. BMC Public Health 2010; 10:248.
- Venne V, Meyer LJ. Genetics and the veterans health administration. Genet Med 2014; 16:573.
- 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
- Online tools for locating a counselor
- SUMMARY AND RECOMMENDATIONS