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At least 19 recordsLinked to original sources
PubMed1978

The peroneal muscular atrophy syndrome: clinical, genetic, electrophysiological and nerve biopsy studies. I. Clinical, genetic and electrophysiological findings and classification.

1. A clinical, genetic, electrophysiological and nerve biopsy study of 49 index cases with peroneal muscular atrophy is reported. 2. In dominantly inherited cases, motor conduction velocities of the upper limbs within kinships indicated segregation into five groups which we have termed: a) hypertrophic neuropathy (less than 25 m/sec); b) intermediate group (25-45 m/sec); c) neuronal sensorimotor neuropathy (greater than 45 m/sec); d) neuronal motor neuropathy (greater than 45 m/sec); e) neuronal motor neuropathy with upper motor neurone involvement (greater than 45 m/sec). 3. The intermediate group is distinguished from the hypertrophic neuropathy group by the absence of clinically observed nerve hypertrophy and by the presence of a number of clinical features, including a more rapidly progressive disease. It is concluded to be genetically separate. This group is similarly quite distinct from the neuronal groups. Nerve biopsy studies support this view (Madrid et al., 1977; Bradley et al., 1977). 4. There was a relationship between severity of the disease and the conduction velocity which was most evident in the intermediate group. 5. There appeared to be an increase in motor conduction velocity with age in the hypertrophic neuropathy group, while the velocity fell in older patients in the intermediate group. 6. Sensory conduction velocity generally paralleled motor velocity but showed relatively less reduction. 7. Upper motor neurone features were not uncommon, appearing particularly in the intermediate group. Their presence may not therefore be a reliable basis for the classification of cases of peroneal muscular atrophy. 8. Tremor was observed in the hypertrophic, intermediate and neuronal motor neuropathy groups of patients, and does not provide a useful criterion for the classification of peroneal muscular atrophy. 9. There was occasional evidence to suggest poor or abnormal expression of the gene in dominantly inherited cases. Until more specific markers are available sporadic cases should be classified on the basis of the dominant forms, though they show a greater variability.

England↗
PubMed1990

Genetic imprinting in clinical genetics.

Genetic, and indeed genomic, imprinting does occur in humans. This is manifest at the level of the genome, the individual chromosome, subchromosomal region or fragile site, or the single locus. The best evidence at the single gene level comes from a consideration of familial tumour syndromes. Chromosomal imprinting effects are revealed when uniparental disomy occurs, as in the Prader-Willi syndrome and doubtless other sporadic, congenital anomaly syndromes. Genomic imprinting is manifest in the developmental defects of hydatidiform mole, teratoma and triploidy. Fragile (X) mental retardation shows an unusual pattern of inheritance, and imprinting can account for these effects. Future work in clinical genetics may identify congenital anomalies and growth disorders caused by imprinting: the identification of imprinting effects for specific chromosomal regions in mice will allow the examination of the homologous chromosomal region in humans.

Animals↗
PubMed1990

Analysis of indications for referral to a multidisciplinary medical genetics clinic: implications for training programs in obstetrics and gynecology.

Clinical genetics has become an integral component of obstetric training. Advances in prenatal screening (particularly maternal serum alpha-fetoprotein) and the clinical applications of molecular technologies have broadened the indications for referral to geneticists. During the study period, 1237 patients were referred for genetics consultation. A total of 596 (48%) were referred because of cytogenetic indications (576 for genetic amniocentesis); 252 (20%) because of multifactorial-developmental abnormalities; 204 (17%) because of risk of diseases attributable to single-gene mutations; 58 (5%) because of antenatal teratogen exposure(s); and 127 (10%) because of other reasons. Herein we summarize our experience as a multidisciplinary genetics unit and offer recommendations for broadening resident training curricula to meet current clinical needs. These data will be useful for enhancement of health care use and more effective direction of limited resources.

Ambulatory Care Facilities↗
PubMed1975

[Human genetics. Clinical and preventive aspects from the viewpoint of obstetrics and gynecology].

Clinical genetics and genetic counselling can be applied effectively only, if close cooperation is secured between the clinical geneticist and the physician in the field. The limited capacity of all institutes of human genetics makes it mandatory that general practicioners and the various specialists preselect patients for special genetic work-up and counselling. Quite often it is their obligation also to secure and document findings, prerequisite for effective genetic counselling, which would be lost otherwise. Special points are discussed and illustrated with typical cases.

Achondroplasia↗
PubMed2026

Unraveling 'F' factor: towards a genetic-clinical framework for the musculoskeletal-heart crosstalk in metabolic aging.

BACKGROUND: The rising co-occurrence of cardiometabolic diseases and musculoskeletal degeneration poses a critical challenge to healthy aging, yet the shared biological mechanisms underlying this multimorbidity remain poorly defined. This study aimed to establish an integrative clinical-genetic framework to elucidate the common frailty factor, the 'F' factor, that captures the systemic vulnerability linking cardiometabolic multimorbidity (CMM) and musculoskeletal aging. METHODS: Utilizing the prospective China Health and Retirement Longitudinal Study (CHARLS) cohort, we developed and validated novel Frailty-Integrated Indices for CMM risk prediction, evaluated with machine learning models interpreted via SHapley Additive exPlanations (SHAP). Independently, we applied genomic structural equation modeling (Genomic-SEM) to integrate genome-wide association data from six traits-coronary artery disease, type 2 diabetes, hypertension, bone mineral density, frailty, and telomere length-to model a shared latent genetic factor ('F' factor). This was followed by multivariate GWAS, fine-mapping, transcriptome-wide association study (TWAS), gene-based analysis, and functional annotation to prioritize causal genes, pathways, and cell types. RESULTS: Clinically, several Frailty-Integrated Indices significantly improved CMM risk prediction, with the optimal model achieving an AUC of 0.727. Genetically, we modeled a significant shared latent genetic factor ('F' factor), pinpointing novel risk loci and implicating key genes such as APOE and SLC22A3. These genes were enriched in pathways including cellular senescence and cholesterol metabolism and showed specific expression patterns in developmental brain stages and across multi-organ endothelial cells. CONCLUSION: Our findings provide converging evidence for Musculoskeletal‑Heart crosstalk of metabolic aging and inferred the 'F' factor as a genetic correlate of a transdiagnostic state, which links genetic predisposition to metabolic dysregulation, and systemic functional decline. This work provides a multi-level biological characterization of multimorbidity liability, informing early-risk detection and preventive strategies for complex aging-related comorbidities.

Humans↗
PubMed1978

Six years' experience in a children's hospital genetic clinic.

A genetic clinic has been held once a week at the Red Cross War Memorial Children's Hospital for the past 6 years. During the period 1971--1977, 579 patients were seen, of whom 56% had genetic conditions due to chromosome defects, Mendelian traits or a multifactorial type of inheritance. In these, genetic counselling was a prime importance regarding prognosis, risk of recurrence and possibility of antenatal diagnosis. A further 25% of patients seen had conditions of non-genetic origin and could be reassured, while in the remaining 19% no specific causation was detected.

Chromosome Aberrations↗
PubMed1992

The economics of clinical genetics services. IV. Financial impact of outpatient genetic services on an academic institution.

Those clinical genetic services that do not involve laboratory tests or procedures--i.e., the "cognitive" services such as diagnosis, management, and counseling--are labor-intensive, time-consuming, and not self-supporting. However, as a result of an evaluation at a genetics clinics, a patient will often receive other services at the same medical center. The full economic impact of the genetics clinic may be underappreciated. Therefore, at one medical center we examined (a) three settings that delivered genetics services and (b) two specialty clinics providing services to children with genetics conditions; and we calculated charges and payments for an unselected, consecutive group of outpatients. The results showed that cognitive genetics services accounted for a variable, but generally low, percentage of both the professional (generally physicians') and total charges accumulated by patients as a consequence of their visit to the genetics clinic. With laboratory and procedural charges included, patients seen in general genetics clinics (or their insurance plans) paid up to three times as much to the medical center and to its health professionals as to the genetics professional. These data confirm that clinical genetics services, while not generating enough income to cover their own costs, bring considerable revenue to the medical center. This fact alone should prove useful to the director of clinical genetics programs when they are negotiating finances with institutional administrators.

Fees and Charges↗
PubMed1991

Innovations in human genetics education. Medical student elective in clinical genetics.

The fourth-year medical student elective in clinical genetics has been enhanced by the addition of a problem-solving project. The assignment requires students to pose and answer a practical question about a professionally relevant genetic problem. Exemplary questions and the details of the exercise are given. Six of 10 students choosing an elective in clinical genetics have undertaken the project. Their feedback suggests that the requirements of decision making, library research, discussion with consultants, and medical writing in a limited time period are beneficial additions to the standard elective.

Curriculum↗
PubMed2025

Characterizing trends in clinical genetic testing: A single-center analysis of EHR data from 1.8 million patients over two decades.

A lack of structural data in electronic health records (EHRs) makes assessing the impact of genetic testing on clinical practice challenging. We extracted clinical genetic tests from the EHRs of more than 1.8 million patients seen at Vanderbilt University Medical Center from 2002 to 2022. With these data, we quantified the use of clinical genetic testing in healthcare and described how testing patterns and results changed over time. We assessed trends in types of genetic tests, tracked usage across medical specialties, and introduced a new measure, the genetically attributable fraction (GAF), to quantify the proportion of observed phenotypes attributable to a genetic diagnosis over time. We identified 104,392 tests and 19,032 molecularly confirmed diagnoses. The proportion of patients with genetic testing in their EHRs increased from 1.0% in 2002 to 6.1% in 2022, and testing became more comprehensive with the growing use of multi-gene panels. The number of unique diseases diagnosed with genetic testing increased from 51 in 2002 to 509 in 2022, and there was a rise in the number of variants of uncertain significance. The phenome-wide GAF for 6,505,620 diagnoses made in 2022 was 0.46%, and the GAF was greater than 5% for 74 phenotypes, including pancreatic insufficiency (67%), chorea (64%), atrial septal defect (24%), microcephaly (17%), paraganglioma (17%), and ovarian cancer (6.8%). Our study provides a comprehensive quantification of the increasing role of genetic testing at a major academic medical institution and demonstrates its growing utility in explaining the observed medical phenome.

Humans↗
PubMed2025

The development and usability of 'The Genetics Navigator': a digital solution for adult and paediatric clinical genetics services.

Clinical genetic services address diverse genetic testing needs, but there is no comprehensive digital solution to meet this variety. We aimed to develop and test the usability of the Genetics Navigator (GN), a platform designed to enhance genetic services for paediatric and adult patients. The GN prototype was created with input from a patient and clinician advisory board, informed by prior research. Usability testing involved genetics patients (N = 14), parents of paediatric patients (N = 4), and the general public (N = 10). Participants provided feedback using the 'think aloud' method when using the platform. We used the System Usability Scale (SUS) for quantitative evaluation. Qualitative data were coded by platform section, item, and identified key areas for improvement. Building on the Genetics Adviser platform, we added video and written content for various genetic conditions and patient groups, including pre-test education, counselling, decision support, history collection, post-test result disclosure, and management. Key feedback during rounds of usability testing emphasized the need for a supportive design, seamless workflow, and engaging experience of the tool. The tool was modified to reflect the feedback, and the GN achieved an average SUS score of 87.7 ± 10.9 (N = 28), indicating above-average usability. Future research will evaluate its clinical and cost-effectiveness in a randomized trial.

Humans↗
PubMed1992

The clinical genetics of lupus.

Genetic aspects of lupus are reviewed, including recognition of genetic and clinical heterogeneity, genetic factors in the aetiology and heritability of disease, reproductive implications and genetic counselling of patients. Despite a large literature on the genetic epidemiology and immunogenetics of lupus, it remains difficult to apply the results of laboratory findings to the circumstances of individual patients. Generally, lupus is not transmitted as a simple Mendelian trait, and genetic counselling is based on the multifactorial model of disease aetiology with interaction of multiple genetic and environmental factors. Further studies are needed to clarify the heritability of lupus and improve the data for recurrence risk prediction in lupus families.

Female↗
PubMed2025

Mainstreaming of clinical genetic testing: A conceptual framework.

PURPOSE: Demand for genetic testing is increasing across medicine, whereas the genetics workforce remains stable. In response, mainstreaming models are being introduced, in which nongeneticist clinicians are increasingly involved in the genetic testing pathway. Because a standardized approach would facilitate evaluation and optimal patient care, a unified framework is warranted. METHODS: Through a focus group with clinical genetics experts, a conceptual framework for the mainstreaming of clinical genetic testing is proposed. Through a consensus process, experts elucidated the steps in the diagnostic care pathway and defined a set of variables that influence which mainstreaming model is best suited to specific patient care scenarios. RESULTS: A total of 35 individuals representing 20 distinct clinical genetics services and all Canadian provinces participated in the development of the framework. The framework describes 4 generalizable mainstreaming models of care, each with varying levels of involvement of the clinical genetics service in the diagnostic care pathway. CONCLUSION: This framework will help guide clinical teams in the design and evaluation of mainstreaming efforts. It is critical that these programs are evaluated and shared in a standardized way so that we can implement strategies that allow optimal utilization of genetics resources and improve patient care.

Humans↗
PubMed1990

Hereditary protein C deficiency: a review of the genetics, clinical presentation, diagnosis and treatment.

Protein C (PC) is the central component of a major antithrombotic regulatory system with both anticoagulant and profibrinolytic properties. A deficiency of PC is one of several hereditary abnormalities of haemostatic proteins that have been described in patients with a propensity for thromboembolic complications. Major morbidity is often seen in these patients. The various aspects of hereditary PC deficiency in terms of clinical presentation, genetics, diagnosis and treatment of both homozygous and heterozygous states will be presented. In heterozygous deficiency, the levels of plasma PC are usually between 35% and 65% of normal, whereas the majority of normal individuals have levels between 70% and 130%. PC-deficient patients usually develop venous thrombotic complications between the ages of 15 and 40 years with a high incidence of DVT and pulmonary embolism. The majority of thrombotic lesions appear to develop spontaneously; others are associated with trauma, surgery or pregnancy. Treatment of symptomatic patients is initial heparin therapy followed by coumadin. After multiple thrombotic events, lifelong oral anticoagulant therapy is necessary. The potential complications of treatment are coumadin-induced skin necrosis, heparin-induced thrombocytopenia and bleeding. Homozygous PC deficiency, a rare but fatal hereditary condition, manifests itself with massive DIC and purpura fulminans in the newborn period. Effective treatment for these infants can be instituted with either oral anticoagulant therapy or PC replacement. The heterozygous deficiency of PC is similar to that found in other inherited disorders in that several genetic mechanisms are responsible for the expression of the disease. Both quantitative and qualitative decreases in PC exist, the former being type I deficiency and the latter, type II. The best initial diagnosis of either form involves a clotting (functional) assay while differentiation between the two also requires an antigenic (immunological) assay. Autosomal inheritance with significant variable penetrance is found with profound clinical implications. In summary, PC deficiency is one of a group of inherited disorders termed hereditary thrombotic disease, which may have serious implications for patient morbidity and mortality.

Humans↗