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Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

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PubMed1976

Medical genetics.

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Genetics↗
PubMed1978

[Future problems of medical genetics].

The following future problems of medical genetics can be identified: 1. Description and analysis of new genetic diseases, especially in developing countries 2. Biochemical analysis, especially of dominant diseases 3. Elucidation of genetic causes for common diseases and their interaction with specific environmental factors (drugs and other chemicals). In the near future it will be possible to provide every newborn with a list of specific advises for prevention of health hazards; this list will be based on the genetic polymorphisms and their impact on health and disease.

Developing Countries↗
PubMed2025

Reconciling competencies in undergraduate medical genetics education: APHMG versus PCME competencies.

PURPOSE: We wanted to understand whether there were gaps within and/or between the Association of Professors of Human and Medical Genetics (APHMG) and the Association of Pathology Chairs (APC) published competencies for undergraduate medical education pertaining to topics in medical and/or laboratory genetics. METHODS: This study compared and contrasted the APHMG and APC competencies related to genetics to identify gaps between and within each to inform the closure of those gaps in undergraduate medical education curriculum development for medical and laboratory genetics at the University of Florida. RESULTS: Gaps were identified within and between both documents, many relating to neoplasia for nonheritable cancers and various topics related to laboratory genetics, such as interpretation of results, principles of laboratory diagnostics, and explaining results to others. CONCLUSION: APHMG and APC should consider the gaps identified in this study in future updates to their respective competencies. Additionally, medical school curriculum committees may also wish to consider addressing these gaps in the development of medical genetics curricula.

Humans↗
PubMed2025

Biochemical testing for congenital disorders of glycosylation: A technical standard of the American College of Medical Genetics and Genomics (ACMG).

Congenital disorders of glycosylation (CDG) are a large and continually expanding group of disorders that present with a variety of clinical findings and have been linked to over 170 genes. Individually, CDGs are rare; however, the true incidence may be underestimated because of the variability of the clinical findings, and the multiple testing strategies needed to diagnosis them across multiple pathways. Testing for CDGs has evolved over recent years with the availability of high-throughput molecular testing and improved gene discovery techniques. Biochemical testing to detect defects in glycosylated proteins or enzymatic deficiency still plays a critical role in the diagnosis of affected individuals, and both testing modalities are often required to finalize a diagnosis. Emerging therapeutic approaches targeting improvements in glycosylation require reliable and reproducible biochemical testing for therapeutic monitoring, dose adjustment, and avoidance of dose-related side effects. To maintain clinical sensitivity and specificity and to ensure reproducibility across laboratories performing complex biochemical testing, the American College of Medical Genetics and Genomics has developed the following technical standard.

Humans↗
PubMed1977

Medical genetics.

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Clinical Competence↗
PubMed1979

Legal and social issues in medical genetics.

This paper was written for the purpose of providing the physician with a perspective of the conflicting scientific, individual, and societal interests which have been evoked by increasing medical and scientific innovation in the area of human genetic disease. In it the following subjects are considered: (1) obtaining genetic information by amniocentesis, by genetic counseling, and by screening; (2) disclosure of genetic data to the patient; (3) inclusion of genetic data on the medical record; (4) courses of action available to the individual after disclosure of genetic information, i.e., abortion, sterilization, etc.; (5) the state and involuntary sterilization; and (6) prohibitions on marriage.

Abortion, Legal↗
PubMed2025

Prenatal screening for trisomy 21 (Down syndrome) using first- and second-trimester biochemistry and nuchal translucency: A technical standard of the American College of Medical Genetics and Genomics (ACMG).

This technical standard was developed as a guide for laboratories performing prenatal screening for Down syndrome. It addresses 3 topics: second trimester (triple or quad), first trimester, including incorporation of nuchal translucency, and current directions in cell-free DNA screening. Analytic methods, clinical considerations, screening performance, guidelines for reporting second trimester, first trimester, integrated, contingent, and reflex screening tests for Down syndrome, are discussed. Individual laboratories are responsible for meeting the quality assurance standards described by the Clinical Laboratory Improvement Amendments, the College of American Pathologists, and other regulatory agencies, with respect to appropriate sample documentation, assay validation, general proficiency, and quality control measures.

Humans↗