A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment

Abstract

Cancer genetic consultation services include the evaluation of patients' personal and family history for concerning features of hereditary cancer predisposition syndromes, development of a differential diagnosis for one or more possible hereditary cancer syndromes, genetic testing if indicated and available, recommendations for management, cancer surveillance and prevention, and information regarding genetic counseling and genetic testing for at-risk relatives. This counseling is informed by the genetic Cancer genetic consultation is an important aspect of the care of individuals at increased risk of a hereditary cancer syndrome. Yet several patient, clinician, and system-level barriers hinder identification of individuals appropriate for cancer genetics referral. Thus, the purpose of this practice guideline is to present a single set of comprehensive personal and family history criteria to facilitate identification and maximize appropriate referral of at-risk individuals for cancer genetic consultation. To develop this guideline, a literature search for hereditary cancer susceptibility syndromes was conducted using PubMed. In addition, GeneReviews and the National Comprehensive Cancer Network guidelines were reviewed when applicable. When conflicting guidelines were identified, the evidence was ranked as follows: position papers from national and professional organizations ranked highest, followed by consortium guidelines, and then peerreviewed publications from single institutions. The criteria for cancer genetic consultation referral are provided in two formats: (i) tables that list the tumor type along with the criteria that, if met, would warrant a referral for a cancer genetic consultation and (ii) an alphabetical list of the syndromes, including a brief summary of each and the rationale for the referral criteria that were selected. Consider referral for a cancer genetic consultation if your patient or any of their firstdegree relatives meet any of these referral criteria.

Von Hippel-Lindau Disease: Genetics and Role of Genetic Counseling in a Multiple Neoplasia Syndrome

“…Among the more than 900 families in whom VHL has been identified, approximately 200 distinct mutations have been found. 7,8,46 The mutation spectrum includes missense (52% of patients), frameshift (13%), nonsense (11%), large and complete deletions (11%), in-frame deletions or insertions (6%), and splice site (7% 56 Whereas other groups have suggested that, in addition to the above, genetic evaluation is warranted for individuals with more than one of the following: pancreatic cystadenoma, pancreatic neuroendocrine tumor, and epididymal and adnexal cystadenoma. 57 …”

Genetic Advances in Oncology and the Effects on Nursing Roles

“…Ashkenazi Yahudileri). [43,46,47] Risk gruplarının belirlenmesi bireylere kişiselleştirilmiş bir kanser tarama planı yapılmasına yardımcı olacağı gibi, koruyucu mastektomi ve ooferoktomi gibi risk azaltıcı stratejilerin kullanılması açısından önemlidir. Bireylerin kişisel risklerine yönelik verilecek eğitim ve danışmanlık hizmetleri ile tıbbi karar vermelerinin kolaylaştırılması, bu risklerinin yönetiminde yer alması ve bilinçli karar vermesi bu sürece uyumunu da arttıracaktır.…”

Toward Concurrent Testing for Somatic and Germline Variants in Cancer Patients

“…Groups such as the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors have issued practice guidelines for referral indications for cancer predisposition assessment (6). Upon referral, the geneticist might order single-or multigene germline testing if a hereditary cancer syndrome is suspected.…”