Utility of Expedited Hereditary Cancer Testing in the Surgical Management of Patients with a New Breast Cancer Diagnosis.

BACKGROUND: Knowledge of a germline pathogenic/likely pathogenic variant (PV) may inform breast cancer management. BRCA1/2 PV often impact surgical decisions, but data for multi-gene panel testing are lacking. Expedited genetic testing reduces turn-around times based on request for treatment-related decision making. This report aims to describe the clinical utility of expedited multi-gene panel testing for patients with newly diagnosed breast cancer. METHODS: Clinical and demographic information were reviewed for patients with newly diagnosed female breast cancer undergoing expedited panel testing between 2013 and 2017. The National Comprehensive Cancer Network guidelines (NCCN, version 1.2018) were evaluated in terms of published management recommendations for the genes in which PVs were identified. RESULTS: The overall PV yield was 9.5% (678/7127) for women undergoing expedited panel testing, with 700 PVs identified among 678 women. PVs were identified in genes other than BRCA1/2 in 55.9% (391/700) of cases. The NCCN guidelines recommend management for the genes in which 96.6% (676/700) of PVs are identified. The NCCN guidelines also recommend risk-reducing mastectomy for 46.0% (322/700) of PVs identified. An additional 45.6% (319/700) of PVs were identified in genes for which NCCN recommends mastectomy based on family history. In addition, 49.9% (349/700) of PVs were in genes with NCCN guidelines recommending prophylactic surgery for tissues other than breast. CONCLUSION: A majority of the patients with newly diagnosed breast cancer were candidates for surgical intervention according to the NCCN guidelines, and half of these patients would have been missed if only BRCA1/2 testing had been ordered. Expedited multi-gene hereditary cancer panel testing should be considered as a first-line approach to provide comprehensive information for breast cancer management.

Genetic counseling in industry settings: Opportunities in the era of precision health.

The skill sets of genetic counselors are strongly utilized in industry, as evidenced by 20% of genetic counselors reporting employment within industry in 2016. In addition, industry genetic counselors are expanding their roles, taking on new responsibilities, and creating new opportunities. These advances have impacted the profession as a whole including, but not limited to, genetic counseling training curricula, a shift back to genetic counseling directly to patients, and a growing influence of genetic counselors on industry test offerings. Industry genetic counselors and training programs are working together to address the challenges and opportunities presented by workforce changes and novel interpretations of how genetic counselors' core competencies can be utilized. Counseling of patients by industry genetic counselors has become more commonplace and addresses a need for alternate service delivery models. Industry genetic counselors often provide significant contributions to test development, education, marketing, and interpretation. Beyond these broad examples, individual industry genetic counselors have created unique niches for themselves, using their genetic counseling training combined with unique opportunities offered through industry, as illustrated by genetic counselors' various roles and responsibilities highlighted here.

Factors Influencing Clinical Follow-Up for Individuals with a Personal History of Breast and/or Ovarian Cancer and Previous Uninformative BRCA1 and BRCA2 Testing.

Genetic testing for inherited cancer risk has recently improved through the advent of multi-gene panels and the addition of deletion and duplication analysis of the BRCA genes. The primary aim of this study was to determine which factors influence the intent of individuals with a personal history of breast and/or ovarian cancer and negative or uncertain BRCA1 and BRCA2 testing to return to a hereditary cancer program for additional genetic risk assessment, counseling, and testing. Surveys were sent to 1197 individuals and 257 were returned. Of those participants who were planning to return to clinic, most cited having family members who could benefit from the test result as the primary motivation to return. Many participants who were not planning to return to clinic cited the cost of testing as a barrier to return. Cost of testing and concerns about insurance coverage were the most commonly cited barriers for the group of participants who were undecided about returning to clinic. Results from this study may be used to guide re-contact efforts by clinicians to increase patient uptake to return to clinic for up-to-date genetic risk assessment, counseling, and testing.

The current state of cancer genetic counseling access and availability.

PURPOSE: Genetic risk assessment and counseling by a qualified genetics professional are recommended to ensure high-quality care for individuals at risk of hereditary cancer. Timely access to genetic services provided by a genetic counselor (GC) is essential, especially in cases where genetic testing results may affect impending surgical decisions. METHODS: A survey of GCs who specialize in cancer genetics was performed to assess service delivery models and ability to accommodate urgent cases. RESULTS: Over half of all respondents indicated that urgent patients can be seen for consultation the same day or within 1-2 business days, and almost all respondents indicated that urgent cases can be seen within 1 week. Most respondents indicated that urgent cases are seen by a GC only with no physician involved. CONCLUSIONS: The results of this survey of GCs demonstrate that timely access to cancer genetic counseling by GCs in an urgent setting is available.Genet Med 18 4, 410-412.

Barriers to and motivations for physician referral of patients to cancer genetics clinics.

Although it is well known that under-referral of colon cancer patients to cancer genetics clinics is a chronic problem, no study has yet examined why physicians may be ordering testing independently rather than referring patients to cancer genetics clinics. The current study explored variables which may impact a physician's preference for ordering testing independently or referring patients to outside cancer genetics experts. An online questionnaire, distributed to the membership of the American College of Gastroenterology and the American Society of Colorectal Surgeons, yielded responses from 298 physicians. Motivations to refer to cancer genetics clinics rather than order testing independently included fear of genetic discrimination and a belief that patients benefit from genetic counseling about the risks, benefits and consequences of testing. These results suggest that in order to increase referrals, genetic counselors must educate physicians about the unique benefits patients receive from participating in genetic counseling.

Hereditary cancer risk assessment in a pediatric oncology follow-up clinic.

BACKGROUND: Pediatric cancer survivors are at risk for multiple late effects including second malignancies, some a direct consequence of genetic susceptibility. Appropriate surveillance and management for the survivor and at-risk family members can often be established if the genetic predisposition is recognized and/or diagnosed. Numerous published guidelines outline which adult cancer patients and survivors should be referred for hereditary cancer risk assessment. In the pediatric oncology setting, minimal guidance exists for healthcare providers to determine which patients and families to refer for genetic evaluation. PROCEDURE: The aim of this project was to determine what percentage of childhood cancer survivors are appropriate for further evaluation in a hereditary cancer program or genetics clinic and characterize indications for referral. Participants included pediatric cancer survivors seen for follow-up in a large cancer survivor center. Medical and family histories were obtained and reviewed by a certified genetic counselor at the survivor's annual visit. Eligibility for genetics referral was determined based on personal/family medical history and published literature. RESULTS: Of 370 survivors of childhood cancer, 109 (29%) were considered eligible for genetics follow-up or referral. Family history of cancer is the most prevalent reason identified for eligibility for further genetics evaluation (61%) followed by tumor type (18%), medical history (16%), and family history of another condition (6%). CONCLUSIONS: This project provides evidence that inclusion of genetic evaluation is feasible and relevant in the care of childhood cancer survivors. Further study is warranted to determine optimal timing and clinical utility of this multidisciplinary and family-centered approach.

Identification, management, and evaluation of children with cancer-predisposition syndromes.

A substantial proportion of childhood cancers are attributable to an underlying genetic syndrome or inherited susceptibility. Recognition of affected children allows for appropriate cancer risk assessment, genetic counseling, and testing. Identification of individuals who are at increased risk to develop cancers during childhood can guide cancer surveillance and clinical management, which may improve outcomes for both the patient and other at-risk relatives. The information provided through this article will focus on the current complexities involved in the evaluation and management of children with cancer-predisposing genetic conditions and highlight remaining questions for discussion.

Parental perspectives of children born with cleft lip and/or palate: a qualitative assessment of suggestions for healthcare improvements and interventions.

OBJECTIVE: To assess parental perspectives on effective interventions and to summarize parents' suggestions for health care professionals to improve the care provided to their children born with cleft lip and/or palate. DESIGN: Qualitative interviews. SETTING: Comprehensive craniofacial center at a Midwest pediatric hospital. PARTICIPANTS: Seventeen parents of children under the age of 1 who were born with CL/P. RESULTS: Interventions that parents identified as effective included repetition of information, showing pictures of other children (before and after surgery), and anticipatory guidance about surgeries and their child's development. Despite the high level of satisfaction, parents expressed a desire for health care professionals to use more written and visual information, to have more contact with other parents of children born with clefts, and for health care professionals outside the Craniofacial Center to be more knowledgeable about CL/P. CONCLUSIONS: Although parents of children with CL/P were for the most part satisfied with their children's care, the parents who were interviewed for this study suggested attainable changes that may result in more constructive and positive involvement of parents as integral members of the craniofacial team.