Multiple endocrine neoplasia type 2 (MEN2) and RET specific modifications of the ACMG/AMP variant classification guidelines and impact on the MEN2 RET database.

The Multiple Endocrine Neoplasia type 2 (MEN2) RET proto-oncogene database, originally published in 2008, is a comprehensive repository of all publicly available RET gene variations associated with MEN2 syndromes. The variant-specific genotype/phenotype information, age of earliest reported medullary thyroid carcinoma (MTC) onset, and relevant references with a brief summary of findings are cataloged. The ACMG/AMP 2015 consensus statement on variant classification was modified specifically for MEN2 syndromes and RET variants using ClinGen sequence variant interpretation working group recommendations and ClinGen expert panel manuscripts, as well as manuscripts from the American Thyroid Association Guidelines Task Force on Medullary Thyroid Carcinoma and other MEN2 RET literature. The classifications for the 166 single unique variants in the MEN2 RET database were reanalyzed using the MEN2 RET specifically modified ACMG/AMP classification guidelines (version 1). Applying these guidelines added two new variant classifications to the database (likely benign and likely pathogenic) and resulted in clinically significant classification changes (e.g., from pathogenic to uncertain) in 15.7% (26/166) of the original variants. Of those clinically significant changes, the highest percentage of changes, 46.2% (12/26), were changes from uncertain to benign or likely benign. The modified ACMG/AMP criteria with MEN2 RET specifications will optimize and standardize RET variant classifications.

Newborn Screening Knowledge and Attitudes Among Midwives and Out-of-Hospital-Birth Parents.

Midwifery and nursing are collaborative partners in both education and practice. Understanding needs and barriers to clinical services such as newborn screening is essential. This study examined knowledge and attitudes of midwives and out-of-hospital-birth parents about newborn blood spot screening (NBS). Descriptive and cross-sectional surveys were distributed to midwives and out-of-hospital-birth parents from birth center registries and the Utah Health Department of Vital Records. Seventeen midwife surveys (response rate: 17%) and 113 parent surveys (response rate: 31%) were returned. Most midwives and out-of-hospital-birth parents reported satisfactory knowledge scores about NBS. Only 5% of parents (n = 6) did not participate in NBS. Most midwives reported that NBS is important and encouraged patients to consider undergoing NBS. Some concerns included the lack of education for both midwives and out-of-hospital patients and the trauma and accuracy of the heel prick soon after birth. Both midwives and out-of-hospital-birth parents expressed a need for improved NBS education. Additional studies are needed to ascertain whether this trend is seen with similar populations throughout the United States, to further elucidate the factors that drive NBS nonparticipation, and to develop educational resources for midwives and their patients.