A Qualitative Exploration of Oncology Clinician's Needs for PGT-M Discussions in Clinical Practice.

Oncology clinicians are appropriately positioned to facilitate discussions of assisted reproductive technologies including preimplantation genetic testing for monogenic disease (PGT-M), in the context of cancer treatment or surveillance. Yet, reproductive services, including PGT-M, remain one of the least implemented services in oncology. No studies to date have explored which practice resources the clinicians need to increase knowledge of PGT-M.

A call for unity in DEIJ efforts using a proposed framework for Education, Recruitment, Retainment, Research, and Active outreach (ERA) for genetic counselors in the United States.

Genetic counselors, like many other healthcare providers, play a vital role in genomic health care. As a profession, we, along with our colleagues and students, have recognized the need to improve and incorporate diversity, equity, inclusion, and justice (DEIJ) within our daily ways of practice to help create access to genomic technologies. In order to create systemic change and focus on unity, open communication, and transparency, we introduce a suggested framework called ERA (Education, Recruitment, Retainment, Research, and Active Outreach).

Inference of Germline Mutational Status and Evaluation of Loss of Heterozygosity in High-Depth, Tumor-Only Sequencing Data.

Purpose: Inherited germline defects are implicated in up to 10% of human tumors, with particularly well-known roles in breast and ovarian cancers that harbor -mutated genes. There is also increasing evidence for the role of germline alterations in other malignancies such as colon and pancreatic cancers. Mutations in familial cancer genes can be detected by high throughput sequencing (HTS), when applied to formalin-fixed paraffin-embedded (FFPE) tumor specimens.

Clinical Actionability of Comprehensive Genomic Profiling for Management of Rare or Refractory Cancers.

Background: The frequency with which targeted tumor sequencing results will lead to implemented change in care is unclear. Prospective assessment of the feasibility and limitations of using genomic sequencing is critically important.

Methods: A prospective clinical study was conducted on 100 patients with diverse-histology, rare, or poor-prognosis cancers to evaluate the clinical actionability of a Clinical Laboratory Improvement Amendments (CLIA)-certified, comprehensive genomic profiling assay (FoundationOne), using formalin-fixed, paraffin-embedded tumors.

Age at diagnosis may trump family history in driving BRCA testing in a population of breast cancer patients.

Background: Standard BRCA genetic testing criteria include young age of diagnosis, family history, and Jewish ancestry. The purpose of this study was to assess the effect of these criteria on BRCA test utilization in breast cancer patients.

Methods: Breast cancer patients aged 18 to 64 years living in Pennsylvania in 2007 completed a survey on family history of breast and ovarian cancer and BRCA testing (N = 2,213).

Identification of genetic counseling service delivery models in practice: a report from the NSGC Service Delivery Model Task Force.

Increasing demand for genetic services has resulted in the need to evaluate current service delivery models (SDMs) and consider approaches that improve access to and efficiency of genetic counseling (GC). This study aimed to describe SDMs currently used by the GC community. The NSGC membership was surveyed regarding the use of four SDMs: in-person GC, telephone GC, group GC, and telegenetics GC.

The evolution of personalized cancer genetic counseling in the era of personalized medicine.

Practice changes in cancer genetic counseling have occurred to meet the demand for cancer genetic services. As cancer genetics continues to impact not only prevention strategies but also treatment decisions, current cancer genetic counseling models will need to be tailored to accommodate emerging clinical indications. These clinical indications include: surgical prophylactic bilateral mastectomy candidates, PARP-inhibitor candidates, patients with abnormal tumor screening results for Lynch syndrome, and post-test counseling patients (after genetic testing is ordered by another healthcare provider).

Delivery of Internet-based cancer genetic counselling services to patients' homes: a feasibility study.

We examined the feasibility of home videoconferencing for providing cancer genetic education and risk information to people at risk. Adults with possible hereditary colon or breast and ovarian cancer syndromes were offered Internet-based counselling. Participants were sent web cameras and software to install on their home PCs.

Facilitating informed decisions regarding microsatellite instability testing among high-risk individuals diagnosed with colorectal cancer.

Purpose: To evaluate the impact of a CD-ROM intervention in the education of patients with suspected Lynch syndrome (LS) about microsatellite instability (MSI) and immunohisochemistry (IHC) testing.

Patients And Methods: Two hundred thirteen patients meeting Bethesda criteria were randomly assigned to receive either a brief educational session with a health educator (n = 105) or a brief educational session plus a CD-ROM (n = 108). Assessments were administered at baseline and 2 weeks post-treatment.

Cancer genetic risk assessment and referral patterns in primary care.

Purpose: This study was undertaken to describe cancer risk assessment practices among primary care providers (PCPs).

Methods: An electronic survey was sent to PCPs affiliated with a single insurance carrier. Demographic and practice characteristics associated with cancer genetic risk assessment and testing activities were described.

Knowledge and attitudes about microsatellite instability testing among high-risk individuals diagnosed with colorectal cancer.

For individuals meeting Bethesda criteria for hereditary nonpolyposis colorectal cancer syndrome, the microsatellite instability (MSI) test is recommended as a screening evaluation before proceeding to genetic testing. The MSI test is new to the medical setting, but will be increasingly used to screen patients at high risk for hereditary nonpolyposis colorectal cancer. The main goals of this study were to examine knowledge about and exposure to the MSI test among individuals considering the test, to evaluate perceived benefits and barriers to undergoing the MSI test, and to identify the demographic, medical, and psychosocial correlates of the perceived benefits and barriers to undergoing the test.