Essential Elements of Genetic Cancer Risk Assessment, Counseling, and Testing: Updated Recommendations of the National Society of Genetic Counselors

Overview

Journal J Genet Couns

Publisher Wiley

Specialty Genetics

Date 2011 Dec 3

PMID 22134580

Citations 144

Authors

Bronson D Riley

Julie O Culver

Cecile Skrzynia

Leigha A Senter

June A Peters

Josephine W Costalas

Faith Callif-Daley

Sherry C Grumet

Katherine S Hunt

Rebecca S Nagy

Wendy C McKinnon

Nancie M Petrucelli

Robin L Bennett

Angela M Trepanier

Affiliations

Soon will be listed here.

Abstract

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.

Citing Articles

Understanding Genetic Screening: Harnessing Health Information to Prevent Disease Risks.

Lee C, Chuang C, Chiu H, Chang Y, Tu Y, Lo Y Int J Med Sci. 2025; 22(4):903-919.

PMID: 39991772 PMC: 11843151. DOI: 10.7150/ijms.101219.

Expanding access to genetic testing for pancreatic cancer.

Rodriguez N, Syngal S Fam Cancer. 2024; 23(3):247-254.

PMID: 38733419 PMC: 11532997. DOI: 10.1007/s10689-024-00389-w.

Advancing GCT Management: A Review of miR-371a-3p and Other miRNAs in Comparison to Traditional Serum Tumor Markers.

Seales C, Puri D, Yodkhunnatham N, Pandit K, Yuen K, Murray S Cancers (Basel). 2024; 16(7).

PMID: 38611057 PMC: 11010994. DOI: 10.3390/cancers16071379.

The history of families at-risk for hereditary breast and ovarian cancer: what are the impacts of genetic counseling and testing?.

Campacci N, Grasel R, Galvao H, Garcia L, Ribeiro P, Pereira K Front Psychol. 2024; 15:1306388.

PMID: 38500651 PMC: 10946339. DOI: 10.3389/fpsyg.2024.1306388.

Genetic counselors' and community clinicians' implementation and perceived barriers to informed consent during pre-test counseling for hereditary cancer risk.

Capasso A, Nehoray B, Gorman N, Quinn E, Bucio D, Blazer K J Genet Couns. 2024; 34(1):e1887.

PMID: 38480478 PMC: 11393174. DOI: 10.1002/jgc4.1887.

References

Pieterse A, Ausems M, Van Dulmen A, Beemer F, Bensing J . Initial cancer genetic counseling consultation: change in counselees' cognitions and anxiety, and association with addressing their needs and preferences. Am J Med Genet A. 2005; 137(1):27-35. DOI: 10.1002/ajmg.a.30839. View

Rich E, Burke W, Heaton C, Haga S, Pinsky L, Short M . Reconsidering the family history in primary care. J Gen Intern Med. 2004; 19(3):273-80. PMC: 1492151. DOI: 10.1111/j.1525-1497.2004.30401.x. View

. Genetic risk assessment and BRCA mutation testing for breast and ovarian cancer susceptibility: recommendation statement. Ann Intern Med. 2005; 143(5):355-61. DOI: 10.7326/0003-4819-143-5-200509060-00011. View

Hampel H, Sweet K, Westman J, Offit K, Eng C . Referral for cancer genetics consultation: a review and compilation of risk assessment criteria. J Med Genet. 2004; 41(2):81-91. PMC: 1735676. DOI: 10.1136/jmg.2003.010918. View

Evans D, Birch J, Ramsden R, Sharif S, Baser M . Malignant transformation and new primary tumours after therapeutic radiation for benign disease: substantial risks in certain tumour prone syndromes. J Med Genet. 2005; 43(4):289-94. PMC: 2563223. DOI: 10.1136/jmg.2005.036319. View

Byrski T, Gronwald J, Huzarski T, Grzybowska E, Budryk M, Stawicka M . Pathologic complete response rates in young women with BRCA1-positive breast cancers after neoadjuvant chemotherapy. J Clin Oncol. 2009; 28(3):375-9. DOI: 10.1200/JCO.2008.20.7019. View

Couch F, DeShano M, Blackwood M, Calzone K, Stopfer J, Campeau L . BRCA1 mutations in women attending clinics that evaluate the risk of breast cancer. N Engl J Med. 1997; 336(20):1409-15. DOI: 10.1056/NEJM199705153362002. View

Wham D, Vu T, Chan-Smutko G, Kobelka C, Urbauer D, Heald B . Assessment of clinical practices among cancer genetic counselors. Fam Cancer. 2010; 9(3):459-68. DOI: 10.1007/s10689-010-9326-9. View

Koehly L, Peters J, Kenen R, Hoskins L, Ersig A, Kuhn N . Characteristics of health information gatherers, disseminators, and blockers within families at risk of hereditary cancer: implications for family health communication interventions. Am J Public Health. 2009; 99(12):2203-9. PMC: 2775786. DOI: 10.2105/AJPH.2008.154096. View

10.

. ASHG statement. Professional disclosure of familial genetic information. The American Society of Human Genetics Social Issues Subcommittee on Familial Disclosure. Am J Hum Genet. 1998; 62(2):474-83. PMC: 1376910. View

11.

Pieterse A, Van Dulmen A, Beemer F, Bensing J, Ausems M . Cancer genetic counseling: communication and counselees' post-visit satisfaction, cognitions, anxiety, and needs fulfillment. J Genet Couns. 2007; 16(1):85-96. PMC: 1915655. DOI: 10.1007/s10897-006-9048-1. View

12.

Sargent D, Marsoni S, Monges G, Thibodeau S, Labianca R, Hamilton S . Defective mismatch repair as a predictive marker for lack of efficacy of fluorouracil-based adjuvant therapy in colon cancer. J Clin Oncol. 2010; 28(20):3219-26. PMC: 2903323. DOI: 10.1200/JCO.2009.27.1825. View

13.

Kenen R, Shapiro P, Friedman S, Coyne J . Peer-support in coping with medical uncertainty: discussion of oophorectomy and hormone replacement therapy on a web-based message board. Psychooncology. 2007; 16(8):763-71. DOI: 10.1002/pon.1152. View

14.

Gail M, Brinton L, Byar D, Corle D, Green S, Schairer C . Projecting individualized probabilities of developing breast cancer for white females who are being examined annually. J Natl Cancer Inst. 1989; 81(24):1879-86. DOI: 10.1093/jnci/81.24.1879. View

15.

Lindor N, Petersen G, Hadley D, Kinney A, Miesfeldt S, Lu K . Recommendations for the care of individuals with an inherited predisposition to Lynch syndrome: a systematic review. JAMA. 2006; 296(12):1507-17. DOI: 10.1001/jama.296.12.1507. View

16.

Eng C, Hampel H, de la Chapelle A . Genetic testing for cancer predisposition. Annu Rev Med. 2001; 52:371-400. DOI: 10.1146/annurev.med.52.1.371. View

17.

Bennett R, French K, Resta R, Doyle D . Standardized human pedigree nomenclature: update and assessment of the recommendations of the National Society of Genetic Counselors. J Genet Couns. 2008; 17(5):424-33. DOI: 10.1007/s10897-008-9169-9. View

18.

Tutt A, Robson M, Garber J, Domchek S, Audeh M, Weitzel J . Oral poly(ADP-ribose) polymerase inhibitor olaparib in patients with BRCA1 or BRCA2 mutations and advanced breast cancer: a proof-of-concept trial. Lancet. 2010; 376(9737):235-44. DOI: 10.1016/S0140-6736(10)60892-6. View

19.

Lindor N, McMaster M, Lindor C, Greene M . Concise handbook of familial cancer susceptibility syndromes - second edition. J Natl Cancer Inst Monogr. 2008; (38):1-93. DOI: 10.1093/jncimonographs/lgn001. View

20.

Baum A, Friedman A, Zakowski S . Stress and genetic testing for disease risk. Health Psychol. 1997; 16(1):8-19. DOI: 10.1037//0278-6133.16.1.8. View