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This study characterizes the US clinical genetics workforce to inform workforce planning and public policy development.

To inform the genetics and genomics field about the results of a 2019 workforce survey of U.S. laboratory geneticists.

Purpose:With the relentless expansion of genetics into every field of medicine, stronger preclinical and clinical medical student education in genetics is needed. The explosion of genetic information cannot be addressed by simply adding content hours. We proposed that students be provided a tool to access accurate clinical information on genetic conditions and, through this tool, build life-long learning habits to carry them through their medical careers.Methods:Surveys conducted at the Johns Hopkins University School of Medicine revealed that medical students in all years lacked confidence when approaching genetic conditions and lacked a reliable resource for accurate genetic information. In response, the school created a horizontal thread that stretches across the first-year curriculum and is devoted to teaching students how to use Online Mendelian Inheritance in Man (OMIM) (http://omim.org) and the databases to which it links as a starting point for approaching genetic conditions.Results:The thread improved the first-year students’ confidence in clinical genetics concepts and encouraged use of OMIM as a primary source for genetic information. Most students showed confidence in OMIM as a learning tool and wanted to see the thread repeated in subsequent years.Conclusion:Incorporating OMIM into the preclinical curriculum improved students’ confidence in clinical genetics concepts.Genet Med 17 2, 158–163.

We have conducted a cross-sectional analysis of the genetic and environmental contributions to the variance of anthropometric measurements in children during early adolescence. Univariate path analysis was used to estimate the relative contributions of genes, individual environment, and family environment to measures of childhood obesity in 259 11-y-old Caucasian twin pairs. Triceps, subscapular, and suprailiac skinfold thicknesses, as well as waist circumferences, ht, and wt were measured in a standardized protocol. In this sample, a parsimonious model that included only additive genetic effects and environmental factors unique to the individual provided an adequate explanation for the variation in ht, wt, quetelet index, and subscapular and triceps skinfolds. In this largely preadolescent population, different magnitudes of genetic effects were seen in males and females for waist circumference, biiliac diameter, and suprailiac skinfold.

ABSTRACT: We have conducted a cross-sectional analysis of the genetic and environmental contributions to the variance of anthropometric measurements in children during early adolescence. Univariate path analysis was used to estimate the relative contributions of genes, individual environment, and family environment to measures of childhood obesity in 259 11-y-old Caucasian twin pairs. Triceps, subscapular, and suprailiac skinfold thicknesses, as well as waist circumferences, ht, and wt were measured in a standardized protocol. In this sample, a parsimonious model that included only additive genetic effects and environmental factors unique to the individual provided an adequate explanation for the variation in ht, wt, quetelet index, and subscapular and triceps skinfolds. In this largely preadolescent population, different magnitudes of genetic effects were seen in males and females for waist circumference, biiliac diameter, and suprailiac skinfold.

Growing recognition of the urgent need for reform in medical education was underscored by a recent AAMC report which recommended the promotion of self education, problem solving and life long learning. We have implemented an instructional module in human genetics for first year medical students which achieved these and other desirable educational goals. During their second week in medical school each student was assigned a different entry from the 1983 edition of McKusick's Mendelian Inheritance in Man to revise and update in a semi-structured format. The resulting entries were discussed in small sections, reviewed and compiled to provide each student with a compendium of genetic disorders. Instructors found that nearly all of the important principles of Mendelian inheritance could be illustrated with the random sets of entities assigned to each discussion group. Students learned to use the library, gained an appreciation of the importance of genetic disease and were able to master clinical and experimental material with surprising ease. More than half the students spent 11-20 hours on the assignment and reviewed from 6-10 articles in detail. The caliber of the entries was significantly correlated with the time spent on the exercise, but not the number of papers reviewed, prior knowledge of the disease, the frequency with which a dictionary was used or undergraduate exposure to genetics. Student response to the exercise was favorable and raised the question of the extent to which this approach can be generalized to other disciplines.

Although the HDL lipoprotein fraction is thought to protect against coronary heart disease (CHD) the roles of the HDL subfractions are less well understood. We have studied the genetic and environmental influences on quantitative measurements of the HDL2and HDL3cholesterol subfractions in 42 pairs of normal adolescent monozygotic (MZ) and dizygotic (DZ) twins and their parents who were ascertained from local schools. The lipid determinations were performed by single vertical spin centrifugation and data were also obtained on blood pressure family history of CHD, and other physical and environmental attributes. Overall, boys had higher HDL3levels than girls (38.8 ± 5.39 vs 35.4 ± 5.69mg/dl). Both paternal and maternal HDL2levels were significantly correlated with those of the twins but the spousal correlations were not significant. The intrapair correlations for total HDL cholesterol and the HDL2and HDL3subfractions were all significant (p<.05) for MZ but not DZ twins. Twins with 2° relatives dying of stroke or CHD before age 55 had lower HDL2levels (p<0.05), while self-reported physical activity in girls correlated with increased HDL2. Our data suggest that genetic factors have a major influence on levels of HDL2in adolescents. Low levels of HDL2in twins may identify families at risk for CHD, while physical activity, especially in girls, appears to raise HDL2, which may reduce risk.

Active smoking, a risk factor for ischemic heart disease, causes marked changes in systemic oxygen transport. To determine the effects of chronic passive smoking (PS) on oxygen transport and myocardial oxygen demand, we examined the relationship of PS to both left ventricular (LV) wall thickness and red cell 2, 3 diphosphoglycerate (DPG). We studied 168 nonsmoking(NS) and 40 PS preadolescent twins (11.6 years old) by supine m-mode echocardiography and measured blood levels of DPG and thiocyanate (SCN). PS twins had a thicker ventricular septum(VS) (.67±.08 vs .64±.08 cm, p<.05) and LV posterior wall (LVPW) (.66±.09 vs .64±.07 cm, p<.05). M-mode increases occurred mainly in male PS twins (p<.001). LV radius/LVPW was lower in PS twins (3.36±.45 vs 3.56±.45, p<.05) and correlated with SCN, r=(-).37, p<.01. LV wall stress index was higher in PS twins (32.8±4.8 vs 31.0±5.2 torr, p<.05) and correlated with SCN, r=(+).31, p<.05. DPG was increased in twins whose mothers smoked >10 cigarettes/d (2.34±.25 vs 2.06±.26umol/ml, rp<.05). DPG correlated positively with VS(p<.005) and with LVPW(p<.001) and correlated negatively with LV radius/LVPW (p=.0001). We conclude that chronic PS twins have both increased LV wall thickness and wall stress which increase myocardial oxygen requirements. These changes occur mainly in males. Since twin DPG is increased in chronic PS, altered oxygen supply/demand may be the mechanism for the increased LV thickness and the subsequent development of ischemic heart disease.