Cardiac genetic counseling services: Exploring downstream revenue in a pediatric medical center.

Genetic counseling is an important component of pediatric cardiac care. The financial costs and benefits of this care have yet to be defined in the literature. Downstream revenue (DSR) analysis can be used to assess the economic impact of genetic counselors (GCs) at their institution beyond the initial patient contact.

Current practice of cancer predisposition testing in pediatric patients with CNS tumors in the United States.

An estimated 8.6% of all pediatric patients with central nervous system tumors (CNSTs) have underlying hereditary cancer predisposition (HCP). Identifying HCP affects risk assessment and medical management options for the patients and their family members.

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.

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.

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.

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.

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.

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.

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.

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.