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At least 19 recordsLinked to original sources
PubMed1975

Advances in medical genetics.

Although advances in medical genetics are designed ultimately to help human beings receive better health care, they pose many problems for society. Some of these concerns are real, but others result from misunderstanding and/or misrepresentation of the true implication of certain developments in genetics. It is obvious that the geneticist must play a dual role in society as scientist and as advocate. Although such a duality or role is not easy, it is not impossible. However, it does mean that the training of the medical geneticist must include more than exposure to the scientific approach.

Biomedical Research↗
PubMed2025

The 2023 medical genetics workforce in the United States.

PURPOSE: To characterize the 2023 medical genetics and genomics workforce in the United States-comprising clinical geneticists, genetic counselors, genetic nurses, genetic physician assistants, laboratory geneticists, and metabolic dietitians-to inform genetics workforce efforts. METHODS: National genetics membership or board-certification organizations distributed an electronic survey to medical genetics professionals in early 2023. Questions were derived from prior workforce surveys and by a workgroup led by the National Coordinating Center for the Regional Genetics Networks. RESULTS: Of the 3070 medical genetics professionals who responded, 66.0% were genetic counselors, 15.4% were clinical geneticists, 12.2% were laboratory geneticists, 4.7% were metabolic dietitians, and 1.7% were genetic nurses or physician assistants. The respondents identified as White (76.1%) and women (84.7%); there were statistically significant differences between disciplines. Forty percent worked in academic centers; 55.3% worked 41+ hours per week. Nearly 11% of respondents provided services in a language other than English. Despite 34.7% of respondents experiencing some burnout, most had no plans to leave the field (94.4%) within the next year. CONCLUSION: The medical genetics community needs to advance workforce initiatives to support current personnel and attract new and diverse individuals to the field to serve patients and their families.

Humans↗
PubMed1977

[New challenges in health education. Medical genetics].

The article examines the reasons for the accelerated development of medical genetics in the last 30 years. It dwells on why hereditary diseases have become so prominent in the vital statistics of many countries, and reviews the biological and social aspects of these diseases. It is further noted that, despite the new importance of these diseases, the medical schools in which medical genetics is taught are relatively few, and physicians are turned out without even a rudimentary grounding with which to face problems in this field. The author concludes that there is urgent need to plan and develop an extensive program of education in medical genetics on both the under and postgraduate levels, and in the community itself.

Developing Countries↗
PubMed2025

Venous thromboembolism laboratory testing (factor V Leiden and factor II c.∗97G>A), 2025 revision: A technical standard of the American College of Medical Genetics and Genomics (ACMG).

Venous thromboembolism (VTE) occurs when a blood clot forms in a vein. The etiology of VTE is multifactorial, including both environmental and genetic factors. Among the genetic factors, factor V Leiden and factor II c.∗97G>A (formerly referred to as prothrombin 20210G>A) are the 2 most common genetic variants associated with VTE. Testing for these variants is one of the most common referrals in clinical genetics laboratories. Although the methodologies for testing these 2 variants are relatively straightforward, the clinical implementation can be complicated regarding test indications, risk assessment for occurrence, and recurrence of VTE and related genetic counseling. This document provides an overview of VTE, information about the variants and their influence on risk, considerations before initiating genetic testing, and the clinical and analytical sensitivity and specificity of the tests. Key information that should be included in the laboratory report is also provided. This document supersedes the Technical Standards and Guidelines for Venous Thromboembolism Laboratory Testing originally published in 2005 and revised in 2018. It is designed for genetic testing professionals familiar with the disease and the analysis methods.

Humans↗
PubMed2025

Medical genetics and genomics residency programs: Trends in applications, match rates, and matriculation from 2015 to 2024.

PURPOSE: This report analyzes Medical Genetics and Genomics (MGG) training trends from 2015 to 2024. Understanding such trends is vital for developing targeted recruitment and workforce development initiatives. METHODS: Matriculation data from the American Board of Medical Genetics and Genomics (ABMGG) and publicly available data from the National Resident Matching Program (NRMP) Main Residency and Specialty Matches were reviewed. Descriptive statistics and linear regression analysis were used to compare growth among MGG training pathways and to analyze trends. RESULTS: From 2015 to 2024, there has been a small, but not statistically significant, increase in the total number of individuals who have matched into categorical MGG, combined Pediatrics (Peds)-MGG, and combined Internal Medicine (IM)-MGG residency programs as a whole. This has been driven by an increase in the number of matches to combined Peds-MGG programs. Matriculation into training programs has exceeded the number of matches in categorical MGG as some positions have been filled outside of the NRMP Match. The average match rate for all applicants in categorical MGG (87%) has been higher than that for Peds-MGG (52%). CONCLUSION: Growth in applicants to combined programs and matriculation into residency programs after the NRMP Match has been promising; however, these increases are not enough to fulfill growing workforce demands.

Internship and Residency↗
PubMed1977

Clinical neurogenetics. A survey of the relationship of medical genetics to clinical neurology.

A retrospective survey was made of the prevalence of neurologic disorders with an established or possible genetic component in a university hospital patient population. More than half the patient visits to the Medical Genetics Clinic concerned diseases of the nervous system. More than 20 percent of pediatric neurology inpatients and at least 8.5 percent of adult neurology inpatients had disorders with a genetic factor. This study documents the common ground shared by medical genetics and clinical neurology.

Down Syndrome↗
PubMed2025

Isolated lateralized overgrowth and the need for tumor screening: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).

PURPOSE: To provide diagnostic guidance for individuals with lateralized overgrowth (LO) and implement appropriate screening protocols. LO without a syndromic presentation is considered idiopathic isolated lateralized overgrowth (ILO). METHODS: We performed a literature search of LO syndromes and malignancy risk and reviewed existing guidelines and expert input. RESULTS: We integrated 940 unique articles to form recommendations. We defined LO as significantly larger length and/or girth of aspect(s) of one side of the body compared with its contralateral side. It can be associated with somatic overgrowth syndromes. ILO was previously defined based on clinical features and deemed idiopathic by absence of molecular findings. Much of the tumor risk is likely because of specific LO syndromic causes now identified through improved diagnostic technologies; therefore, the tumor risk in idiopathic ILO is likely lower than previously accepted. CONCLUSION: Mosaicism complicates molecular diagnosis for children with LO. However, conditions such as Beckwith-Wiedemann spectrum and PTEN-related hamartoma tumor syndrome necessitate routine tumor screening. Establishing a specific diagnosis via comprehensive molecular testing on affected tissue will guide screening and management. In cases of idiopathic ILO, location of the overgrowth, estimation of tumor risk, regional practice approaches and family concerns all play roles in determining tumor screening.

Child↗