Increasing Appropriate BRCA1/2 Mutation Testing: The Role of Family History Documentation and Genetic Counseling in a Multidisciplinary Clinic

Abstract

This report shows substantially higher FH documentation and appropriate genetic testing rates than prior reports. Many patients with indications for genetic testing may have only FH-based indications for testing, and this subset may account for the sizable proportion of patients with newly diagnosed BCa who have actionable mutations.

The design, implementation, and effectiveness of intervention strategies aimed at improving genetic referral practices: a systematic review of the literature

“…Extracted and coded data were synthesized using a narrative framework (incorporating theoretical perspectives), with findings tabulated, grouped, and structured into key themes by one author Provider lack of knowledge about the genetic counseling referral process [3,34] Patient lack of knowledge about the availability of genetic services [35] Provider lack of knowledge about the availability of genetic services [34,37,73] Patient lack of knowledge about genetic testing and potential benefits [37] Provider lack of knowledge about criteria for pathology tests to guide genetic risk assessment [3] Lack of provider knowledge about the genetic counseling referral process [3,34] Skills Difficulties communicating genetic information to patient [35] Limited exploration and/or documentation of patient family history [36,44,48,54,58] Incomplete ordering of pathology tests (e.g., mismatch repair immunohistochemistry) [3] Difficulties applying referral guidelines/criteria to identify patients at increased genetic risk [3,55,58] Training provided on an ad hoc basis, resulting in unfamiliarity with referral processes [3] Environmental context & resources Lack of on-site genetic counselors [34,56] Limited availability of genetic counselors (due to clinical demands, limited resources) and subsequent long waitlists [34,49,56,57] Lack of geographical access to genetic services [42,49,50] Patient financial constraints preventing access to genetic counseling and testing [50] Time required to collect a complete family history to assess genetic risk [51] Administrative referral barriers (e.g., referral forms not always available in clinic, faxing process can be fraught; multiple electronic management systems and departments with limited connectivity)…”

“…Eighteen studies (56%) resulted in significant improvements in genetic referral practices. Among these studies, clinical data review systems [33,41,[48][49][50][51][52][53], referral and family history tools [36,37,40,43,48,51,54], and efforts to embed genetic staff into nongenetics services [33,[52][53][54][55][56][57] were the most frequently cited intervention components. An additional five studies (17%) also showed improvements, though were not powered for significance [34,39,42,47,58].…”

Defining the role of a genetic counselor within pediatric hematology and oncology comprehensive care teams: Perspectives of the provider team and patients

“…Due to the increased uptake of clinically available genetic testing for many chronic disorders, the genetic counselor (GC) has emerged as a key member of the multidisciplinary team (Blennau, ; Kohne, ; Wood & Lee, ). Incorporating a GC into multidisciplinary clinics has been shown to increase family history documentation, increase appropriate ordering of genetic testing, provide patients with more accurate perceptions of risk, reduce unnecessary screening and testing for unaffected family members, increase identification of patients who may benefit from genetic evaluation for indications other than the reason for current referral, and reduce patient anxiety regarding genetic conditions compared to patients who do not meet with a GC (Baker, Crudder, Riske, Bias, & Forsberg, ; Ingles, Lind, Phongsavan, & Semsarian, ; Kishan et al, ; Knapke, Nagarajan, Correll, Kent, & Burns, ).…”

“…who do not meet with a GC (Baker, Crudder, Riske, Bias, & Forsberg, 2005;Ingles, Lind, Phongsavan, & Semsarian, 2008;Kishan et al, 2016;Knapke, Nagarajan, Correll, Kent, & Burns, 2012).…”

Non-BRCA1/2 Breast Cancer Susceptibility Genes: A New Frontier with Clinical Consequences for Plastic Surgeons

“… 1 , 4 , 7 – 9 Despite remaining controversial, the growth in genetic testing can be expected to increase the proportion of patients diagnosed with a breast cancer susceptibility gene. 4 , 5 , 8 , 10 – 15 …”