Essential Elements of Genetic Cancer Risk Assessment, Counseling, and Testing: Updated Recommendations of the National Society of Genetic Counselors
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Updated from their original publication in 2004, these cancer genetic counseling recommendations describe the medical, psychosocial, and ethical ramifications of counseling at-risk individuals through genetic cancer risk assessment with or without genetic testing. They were developed by members of the Practice Issues Subcommittee of the National Society of Genetic Counselors Familial Cancer Risk Counseling Special Interest Group. The information contained in this document is derived from extensive review of the current literature on cancer genetic risk assessment and counseling as well as the personal expertise of genetic counselors specializing in cancer genetics. The recommendations are intended to provide information about the process of genetic counseling and risk assessment for hereditary cancer disorders rather than specific information about individual syndromes. Essential components include the intake, cancer risk assessment, genetic testing for an inherited cancer syndrome, informed consent, disclosure of genetic test results, and psychosocial assessment. These recommendations should not be construed as dictating an exclusive course of management, nor does use of such recommendations guarantee a particular outcome. These recommendations do not displace a health care provider’s professional judgment based on the clinical circumstances of a client.
KeywordsCancer genetic counseling Risk assessment Genetic testing Family history Psychosocial assessment Hereditary cancer Informed consent
The practice guidelines of the National Society of Genetic Counselors (NSGC) are developed by members of the NSGC to assist genetic counselors and other health care providers in making decisions about appropriate management of genetic concerns; including access to and/or delivery of services. Each practice guideline focuses on a clinical or practice-based issue, and is the result of a review and analysis of current professional literature believed to be reliable. As such, information and recommendations within the NSGC practice guidelines reflect the current scientific and clinical knowledge at the time of publication, are only current as of their publication date, and are subject to change without notice as advances emerge.
In addition, variations in practice, which take into account the needs of the individual patient and the resources and limitations unique to the institution or type of practice, may warrant approaches, treatments and/or procedures that differ from the recommendations outlined in this guideline. Therefore, these recommendations should not be construed as dictating an exclusive course of management, nor does the use of such recommendations guarantee a particular outcome. Genetic counseling practice guidelines are never intended to displace a health care provider’s best medical judgment based on the clinical circumstances of a particular patient or patient population. Practice guidelines are published by NSGC for educational and informational purposes only, and NSGC does not “approve” or “endorse” any specific methods, practices, or sources of information.
- Amir, E., Freedman, O. C., Seruga, B., & Evans, D. G. (2010). Assessing women at high risk of breast cancer: a review of risk assessment models. Journal of the National Cancer Institute, 102(10), 680–691.Google Scholar
- American College of Medical Genetics (ACMG). (1995). Genetic Testing in Children and Adolescents, Points to Consider: Ethical, Legal and Psychosocial Implications. American Journal of Human Genetics, 57, 1233–1241.Google Scholar
- American Society of Clinical Oncology (ASCO). (2003). ASCO policy statement update: genetic testing for cancer susceptibility. Journal of Clinical Oncology, 21(12), 2397–2406.Google Scholar
- American Society of Human Genetics (ASHG) Social Issues Subcommittee on Familial Disclosure. (1998). ASHG statement. Professional disclosure of familial genetic information. American Journal of Human Genetics, 62(2), 474–483.Google Scholar
- Audeh, M. W., Carmichael, J., Penson, R. T., Friedlander, M., Powell, B., Bell-McGuinn, K. M., et al. (2010). Oral poly(ADP-ribose) polymerase inhibitor olaparib in patients with BRCA1 or BRCA2 mutations and recurrent ovarian cancer: a proof-of-concept trial. Lancet, 376(9737), 245–251.PubMedGoogle Scholar
- Bennett, R. L. (1999). The practical guide to the genetic family history. New York: Wiley.Google Scholar
- Bennett, R. L. (2010). The practical guide to the genetic family history (2nd ed.). Hoboken: Wiley-Blackwell.Google Scholar
- Braithwaite, D., Emery, J., Walter, F., Prevost, A. T., & Sutton, S. (2006). Psychological impact of genetic counseling for familial cancer: a systematic review and meta-analysis. Familial Cancer, 5(1), 61–75.Google Scholar
- Brown, K. L., Moglia, D. M., & Grumet, S. (2006). Genetic counseling for breast cancer risk: general concepts, challenging themes and future directions. Breast Disease, 27, 69–96.Google Scholar
- Chivers-Seymour, K., Addington-Hall, J., Lucassen, A., & Foster, C. (2010). What facilitates or impedes family communication following genetic testing for cancer risk? A systematic review and meta-synthesis of primary qualitative research. Journal of Genetic Counseling, 19(4), 330–342.PubMedGoogle Scholar
- Croyle, R. T., Smith, K. R., Botkin, J. R., Baty, B., & Nash, J. (1997). Psychological responses to BRCA1 mutation testing: preliminary findings. Health Psychology, 16(1), 63–72.Google Scholar
- Dorval, M., Patenaude, A. F., Schneider, K. A., Kieffer, S. A., DiGianni, L., Kalkbrenner, K. J., et al. (2000). Anticipated versus actual emotional reactions to disclosure of results of genetic tests for cancer susceptibility: findings from p53 and BRCA1 testing programs. Journal of Clinical Oncology, 18(10), 2135–2142.PubMedPubMedCentralGoogle Scholar
- Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Working Group. (2009). Recommendations from the EGAPP Working Group: genetic testing strategies in newly diagnosed individuals with colorectal cancer aimed at reducing morbidity and mortality from Lynch syndrome in relatives. Genetics in Medicine, 11(1), 35–41.Google Scholar
- Fisher, B., Costantino, J. P., Wickerham, D. L., Redmond, C. K., Kavanah, M., Cronin, W. M., et al. (1998). Tamoxifen for prevention of breast cancer: report of the national surgical adjuvant breast and bowel project P-1 study. Journal of the National Cancer Institute, 90(18), 1371–1388.PubMedPubMedCentralGoogle Scholar
- Forrest, L. E., Burke, J., Bacic, S., et al. (2008). Increased genetic counseling support improves communication of genetic information in families. Genetics in Medicine, 10(3), 167–72.Google Scholar
- Frank, T. S., Manley, S. A., Olopade, O. I., Cummings, S., Garber, J. E., Bernhardt, B., Antman, K., Russo, D., Wood M. E., Mullineau L., et al. (1998). Sequence analysis of BRCA1 and BRCA2: correlation of mutations with family history and ovarian cancer risk. Journal of Clinical Oncology 16, 2417–2425.PubMedGoogle Scholar
- Gaff, L., & Bylund, C. (Eds.). (2010). Family communication about genetics. New York: Oxford University Press.Google Scholar
- Koehly, L. M., Peters, J. A., Kenen, R., Hoskins, L. M., Ersig, A. L., Kuhn, N. R., et al. (2009). Characteristics of health information gatherers, disseminators, and blockers within families at risk of hereditary cancer: implications for family health communication interventions. American Journal of Public Health, 99(12), 2203–2209.PubMedPubMedCentralGoogle Scholar
- Konstantopoulou, I., Pertesi, M., Fostira, F., Grivas, A., & Yannoukakos, D. (2009). Hereditary cancer predisposition syndromes and preimplantation genetic diagnosis: where are we now? Journal of Balkan Union Oncology, 14(Suppl 1), S187–192.Google Scholar
- Lerman, C., Biesecker, B., Benkendorf, J. L., Kerner, J., Gomez-Caminero, A., Hughes, C., & Reed, M. M. (1997). Controlled trial of pretest education approaches to enhance informed decision-making for BRCA1 gene testing. Journal of the National Cancer Institute, 89(2), 148–157.PubMedPubMedCentralGoogle Scholar
- Lindor, N. M., Petersen, G. M., Hadley, D. W., Kinney, A. Y., Miesfeldt, S., Lu, K. H., et al. (2006). Recommendations for the care of individuals with an inherited predisposition to Lynch syndrome: a systematic review. Journal of the American Medical Association, 296(12), 1507–17.Google Scholar
- Lindor, N. M., McMaster, M. L., Lindor, C. J., & Greene, M. H. (2008). Concise handbook of familial cancer susceptibility syndromes—second edition. Journal of the National Cancer Institute. Monographs, 38, 1–93.Google Scholar
- Lindor, N. M., Johnson, K. J., Harvey, H., Pankratz, V. S., Domchek, S. M., Hunt, K., Wilson, M., Smith, C. S., & Couch, F. (2010). Predicting BRCA1 and BRCA2 gene mutation carriers: comparison of PENN II model to previous study. Familial Cancer, 9, 405–402.Google Scholar
- McKinnon, W., Naud, S., Ashikaga, T., Colletti, R., & Wood, M. (2007). Results of an intervention for individuals and families with BRCA mutations: a model for providing medical updates and psychosocial support following genetic testing. Journal of Genetic Counseling, 16(4), 433–456.PubMedPubMedCentralGoogle Scholar
- Metcalfe, K., Lynch, H. T., Ghadirian, P., Tung, N., Olivotto, I., Warner, E., et al. (2004). Contralateral breast cancer in BRCA1 and BRCA2 mutation carriers. Journal of Clinical Oncology, 22(12), 2328–35.Google Scholar
- National Cancer Institute (NCI) (2010). PDQ® Cancer Genetics Risk Assessment and Counseling. Retrieved from https://doi.org/cancer.gov/cancertopics/pdq/genetics/risk-assessment-andcounseling/HealthProfessional.
- National Comprehensive Cancer Network (NCCN) 2 (2011) NCCN Clinical Practice Guidelines in Oncology, Colorectal Cancer Screening. Retrieved from https://doi.org/www.nccn.org/professionals/physician_gls/pdf/colorectal_screening.pdf.
- National Society of Genetic Counselors. (2007). NSGC Position Statement: Direct to Consumer Genetic Testing. Retrieved from https://doi.org/www.nsgc.org/Advocacy/PositionStatements/tabid/107/Default.aspx.
- Nelson, R. M., Botkjin, J. R., Kodish, E. D., Levetown, M., Truman, J. T., Wilfond, B. S., et al. (2001). Ethical issues with genetic testing in pediatrics. Pediatrics, 107(6), 1451–1455.Google Scholar
- Pieterse, A. H., Ausems, M. G., Van Dulmen, A. M., Beemer, F. A., & Bensing, J. M. (2005). Initial cancer genetic counseling consultation: change in counselees’ cognitions and anxiety, and association with addressing their needs and preferences. American Genetics in Medicine, 137(1), 27–35.Google Scholar
- Quillin, J. M., Bodurtha, J. N., Siminoff, L. A., & Smith, T. J. (2010). Exploring hereditary cancer among dying cancer patients-a cross-sectional study of hereditary risk and perceived awareness of DNA testing and banking. Journal of Genetic Counseling, 19(5), 497–525.PubMedPubMedCentralGoogle Scholar
- Qureshi N, Wilson, B., Santaguida P., Carroll J., Allanson J., Ruiz Culebro C., et al. (2007). Collection and Use of Cancer Family History in Primary Care. Evidence Report/Technology Assessment No. 159 (prepared by the McMaster University Evidence-based Practice Center, under Contract No. 290-02-0020). Rockville, MD: Agency for Healthcare Research and Quality, AHRQ Publication No. 08-E001.Google Scholar
- Sargent, D. J., Marsoni, S., Monges, G., Thibodeau, S. N., Labianca, R., Hamilton, S. R., et al. (2010). Defective mismatch repair as a predictive marker for lack of efficacy of fluorouracil-based adjuvant therapy in colon cancer. Journal of Clinical Oncology, 28(20), 3219–3226.PubMedPubMedCentralGoogle Scholar
- Saslow, D., Boetes, C., Burke, W., Harms, S., Leach, M. O., Lehman, C. D., American Cancer Society Breast Cancer Advisory Group, et al. (2007). American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. A Cancer Journal for Clinicians, 57(2), 75–89.Google Scholar
- Schneider, K. A. (2002). Counseling about cancer: Strategies for genetic counseling (2nd ed.). New York: Wiley-Liss.Google Scholar
- Schneider, K. A., DiGianni, L. M., Patenaude, A. F., Klar, N., Stopfer, J. E., Calzone, K. A., et al. (2004). Accuracy of cancer family histories: comparison of two breast cancer syndromes. Genetic Testing and Molecular Biomarkers, 8(3), 222–8.Google Scholar
- Schneider, K. A., Chittenden, A. B., Branda, K. J., Keenan, M. A., Joffe, S., Patenaude, A. F., et al. (2006). Ethical issues in cancer genetics: whose information is it? Journal of Genetic Counseling, 15(6), 491–503.Google Scholar
- Sivell, S., Iredale, R., Gray, J., & Coles, B. (2007). Cancer genetic risk assessment for individuals at risk of familial breast cancer. Cochrane Database of Systematic Reviews(2), CD003721.Google Scholar
- Trepanier, A., Ahrens, M., McKinnon, W., Peters, J., Stopfer, J., Grumet, S. C., et al. (2004). Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. Journal of Genetic Counseling, 13(2), 83–114.Google Scholar
- Trepanier, A., Allain, D., & Cohen S. (2011). Assessing the use of various service delivery models in cancer genetics. Abstract 366. American College of Medical Genetics.Google Scholar
- United States Preventive Services Task Force (USPSTF). (2005). Genetic risk assessment and BRCA mutation testing for breast and ovarian cancer susceptibility: recommendation statement. Annals of Internal Medicine, 143(5), 355–61.Google Scholar
- Umar, A., Boland, C. R., Terdiman, J. P., Syngal, S., de la Chapelle, A., Rüschoff, J., et al. (2004). Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. Journal of the National Cancer Institute, 96(4), 261–8.PubMedPubMedCentralGoogle Scholar