Trisomy 18 is an autosomal trisomy condition characterized by minor to major birth defects, severe disabilities, and high rates of pre‐ and postnatal mortality. Interventions for these infants have traditionally been withheld with focus instead on palliative support. The issues and attitudes surrounding corrective surgery of congenital heart defects, which is a birth defect that occurs in approximately 90% of infants with trisomy 18, is of our study's interest as recent literature has indicated that cardiac surgery is being performed and may lead to improved survival compared to palliative care. Thus, our study aimed to describe clinician attitudes toward cardiac surgery and trisomy 18. We surveyed 378 clinicians from multiple specialties, including genetic counselors, involved in the pre‐ and postnatal care of infants with trisomy 18. Descriptive statistics were performed to describe all clinicians' responses, and a secondary analysis with stratifications by clinician type was also performed. Forty‐eight percent (n = 378) of clinicians felt it was appropriate to discuss the option of cardiac surgery. Ethical concerns and insufficient outcome data were the most agreed upon reasons for not offering cardiac surgery. Trisomy 18 not being uniformly lethal and expressed parental wishes were the most agreed upon justifications for offering surgery. Clinicians felt the discussion of the option of cardiac surgery is appropriate, however are hesitant due to ethical concerns and insufficient outcome data. Results from this study aim to promote discussion and collaboration among clinicians to improve consistency in patient care.
The National Comprehensive Cancer Network recommends clinical-grade genetic testing to confirm commercial results from direct-to-consumer genetic testing (DTC-GT) companies and third-party interpretation (TPI) services; however, the type of confirmatory testing that genetic counselors (GCs) recommend remains uncharacterized. Therefore, we aimed to describe GCs testing strategies for patients who have already obtained DTC-GT results (23andMe) or TPI data (Promethease) that reported a BRCA1/2 pathogenic variant. We invited GCs specializing in clinical cancer genetics to complete an online survey distributed to members of the National Society of Genetic Counselors. The survey, completed by 80 respondents, contained case scenarios featuring probands with variable personal and family histories of cancer. Our results show that the majority of participating GCs have counseled patients for their health-related commercial test results; 94% have encountered patient DTC-GT reports (3 per year), and 69% have encountered patient TPI data (2 per year). Most participating GCs would recommend confirmatory clinical-grade testing for probands with a positive 23andMe BRCA1/2 result (77/80, 96%). However, there was strong variability between the type of recommended testing. Approximately 20% recommended singlesite analysis, 11%-14% recommended the three Ashkenazi Jewish BRCA1/2 founder mutations, 4% recommended BRCA1/2 testing, and 61%-64% recommended multigene panel testing. The most commonly recommended panels were split between a breast and gynecological cancer-focused panel and a broad pan-cancer panel. The majority of participants (98%-100%) would also recommend confirmatory testing for patients with positive TPI data for BRCA1/2. Similarly, results were mixed between those who recommended targeted, single-site analysis (10%-15%) compared to a multi-gene panel (72%-83%). These data show that while most GCs were uniform in their practice of recommending confirmatory testing, they are mixed in their approach to the specific type of testing they would select. These results may help inform counseling approaches and consensus for this expanding group of patients.
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