"Why did I choose genetics?": A survey of current and recent medical genetics and genomics residents provides insight into recruitment efforts.

There is a shortage of clinical geneticists, even with concerted recruitment efforts. Previously, no data had been collected about why young career geneticists chose this specialty. To investigate this question, we carried out a survey of current and recent medical genetics and genomics residents.

The Analyst's Courage and Vulnerability in the Countertransference.

Courage requires us to persist and persevere despite fear. We make choices everyday-some are courageous, and some are not courageous at all. This dimension of psychoanalytic work is significant, yet relatively neglected in the psychoanalytic literature.

The training of future clinical geneticists: Evaluation and reflection on the ACMG Foundation for Genetic and Genomic Medicine Summer Genetics Scholars Program.

Purpose: The purpose of the Summer Genetics Scholars Program of the ACMG Foundation for Genetic and Genomic Medicine is to expose medical students to medical genetics and genomics early during school with the aim of increasing the number of physicians pursuing a career in this field. This survey study evaluated the Summer Genetics Scholars Program on the achievement of its goals.

Methods: Former Summer Genetics Scholars who had completed medical school were sent a 13-question survey aimed at evaluating the program and obtaining feedback about their experiences.

The relationship between performance on the medical genetics and genomics in-training and certifying examinations.

Purpose: The American Board of Medical Genetics and Genomics (ABMGG) certifying examinations (CEs) are designed to assess relevant basic knowledge, clinical knowledge, and diagnostic skills of board-eligible candidates in primary specialty areas. The ABMGG in-training examinations (ITEs) provide formative feedback regarding knowledge and learning over time and assess readiness to attempt board certification. This study addresses the validity of the ABMGG ITE by evaluating its relationship with performance on CE utilizing established psychometric approaches.

The 2019 US medical genetics workforce: a focus on clinical genetics.

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

Methods: A 32-question survey was electronically distributed to American Board of Medical Genetics and Genomics board-certified/eligible diplomates in 2019. We conducted a descriptive analysis of responses from practicing clinical geneticists.

Risk of COVID-19 infection after cardiac electrophysiology procedures.

Background: During the COVID-19 pandemic, attempts to conserve resources and limit virus spread have resulted in delay of nonemergent procedures across all medical specialties, including cardiac electrophysiology (EP). Many patients have delayed care and continue to express concerns about potential nosocomial spread of coronavirus.

Objective: To quantify risk of development of COVID-19 owing to in-hospital transmission related to an EP procedure, in the setting of preventive measures instituted in our laboratory areas.

A comparison of first trimester blood pressures obtained at the time of first trimester pre-eclampsia screening and those obtained during prenatal care visits.

Objective: To determine if enrollment blood pressures in a study on first trimester preeclampsia prediction significantly differed from those obtained during routine prenatal care visits in the first trimester.

Study Design: Women carrying a singleton gestation were prospectively enrolled in a first trimester study on preeclampsia prediction, and had systolic and diastolic blood pressure (SBP, DBP) measured at the time of enrollment. Blood pressure was also measured with the same technique by clinic nurses during the routine prenatal visits throughout the first trimester of pregnancy (9-14 weeks).

Maternal blood-pressure trends throughout pregnancy and development of pre-eclampsia in women receiving first-trimester aspirin prophylaxis.

Objectives: To study women who initiated aspirin in the first trimester for high risk of pre-eclampsia, and compare blood-pressure trends throughout pregnancy between those with normal outcome and those who subsequently developed pre-eclampsia.

Methods: Women were enrolled into a prospective observational study at 9-14 weeks' gestation. This was a secondary analysis of those who started daily doses of 81 mg of aspirin before 16 weeks for increased risk of pre-eclampsia based on maternal history and bilateral uterine artery notching.

Asparaginase Erwinia chrysanthemi effectively depletes plasma glutamine in adult patients with relapsed/refractory acute myeloid leukemia.

Depletion of glutamine (Gln) has emerged as a potential therapeutic approach in the treatment of acute myeloid leukemia (AML), as neoplastic cells require Gln for synthesis of cellular components essential for survival. Asparaginases deplete Gln, and asparaginase derived from Erwinia chrysanthemi (Erwinaze) appears to have the greatest glutaminase activity of the available asparaginases. In this Phase I study, we sought to determine the dose of Erwinaze that safely and effectively depletes plasma Gln levels to ≤ 120 μmol/L in patients with relapsed or refractory (R/R) AML.

Medical genetics and genomics training in obstetrics and gynecology residencies: are we ready for the future?

Objective: The primary objective of this study is to evaluate the availability and duration of formal medical genetics and genomics (MGG) education during obstetrics and gynecology (OB/GYN) residency training in the United States compared to other noncore OB/GYN rotations.

Methods: We performed a review of rotation schedules published in all American Council for Graduate Medical Education (ACGME)-accredited OB/GYN residency programs' websites during the month of December 2016. Information regarding availability and duration of MGG rotation and other noncore OB/GYN rotations (ultrasound, breast health, and family planning) were collected.

Maternal blood pressures during pregnancy and the risk of delivering a small-for-gestational-age neonate.

Objective: To determine the relationship between maternal blood pressures throughout pregnancy and the risk of delivering a small-for-gestational-age (SGA) neonate.

Methods: Women were prospectively enrolled at 9-14 weeks and had serial blood pressure measurements throughout pregnancy. SGA prevalence was compared to maternal blood pressure at enrollment, average blood pressure during each trimester, and blood pressure trends throughout gestation.

Relationship between first-trimester serum placental protein-13 and maternal characteristics, placental Doppler studies and pregnancy outcome.

Objective: To examine potential correlations between maternal serum placental protein-13 (PP-13) and first trimester maternal and placental factors, and to evaluate the association of this marker with adverse pregnancy outcome.

Methods: Serum samples from prospectively enrolled patients between 11 and 13 weeks and 6 days were analyzed for PP-13 using an ELISA assay. The relationships between maternal serum PP-13 levels and gestational age, maternal age, ethnicity, parity, smoking status, body mass index (BMI), mean arterial blood pressure, uterine and umbilical artery Doppler parameters were examined.

Educational innovations in clinical pharmacogenomics.

Genetic and genomic discovery is revolutionizing medicine at an extraordinary pace, leading to a better understanding of disease and improved treatments for patients. This advanced pace of discovery presents an urgency to expand medical school curricula to include genetic and genomic testing (including pharmacogenomics), and integration of genomic medicine into clinical practice. Consequently, organizations and healthcare authorities have charged medical schools with training future physicians to be competent in their knowledge of genomic implementation.

First trimester prediction of maternal glycemic status.

Objective: To predict gestational diabetes mellitus (GDM) or normoglycemic status using first trimester maternal characteristics.

Methods: We used data from a prospective cohort study. First trimester maternal characteristics were compared between women with and without GDM.

First-trimester prediction of pre-eclampsia: external validity of algorithms in a prospectively enrolled cohort.

Objective: To evaluate the performance of published first-trimester prediction algorithms for pre-eclampsia (PE) in a prospectively enrolled cohort of women.

Method: A MEDLINE search identified first-trimester screening-prediction algorithms for early-onset (requiring delivery < 34 weeks) and late-onset (requiring delivery ≥ 34 weeks) PE. Maternal variables, ultrasound parameters and biomarkers were determined prospectively in singleton pregnancies enrolled between 9 and 14 weeks.

External validity of first-trimester algorithms in the prediction of pre-eclampsia disease severity.

Objective: To compare disease features in women with pre-eclampsia between those who are correctly identified (true positive) and those who are missed (false negative) when applying first-trimester prediction algorithms for pre-eclampsia to a prospectively enrolled population.

Method: Six first-trimester early (requiring delivery < 34 weeks' gestation) pre-eclampsia algorithms were applied to a prospective cohort of singleton pregnancies enrolled at first-trimester screening. Maternal outcomes, neonatal outcomes and severity parameters for pre-eclampsia were compared between true-positive and false-negative predictions.

Second-trimester prediction of delivery of a small-for-gestational-age neonate: integrating sequential Doppler information, fetal biometry, and maternal characteristics.

Objective: The aim of this study was to investigate the predictive accuracy of second-trimester ultrasound parameters, maternal characteristics, and sequential Doppler changes between first and second trimesters for the prediction of small-for-gestational-age (SGA) infants (birth weight < 10th percentile).

Methods: We conducted a prospective study of singleton pregnancies enrolled in the first trimester with subsequent second-trimester follow-up. Maternal characteristics, uterine artery (UtA) pulsatility index (PI), fetal biometry, and umbilical artery (UA)-PI were ascertained.

Prediction of preeclampsia utilizing the first trimester screening examination.

Objective: To derive a prediction rule for preeclampsia and early onset preeclampsia requiring delivery <34 weeks using first trimester maternal, ultrasound, and serum markers.

Study Design: Prospective cohort study of women enrolled at first trimester screening. Maternal history, demographics, anthropometry, ultrasound parameters, and serum analytes were compared between women with preeclampsia and normal outcome.

First-trimester prediction of small-for-gestational age neonates incorporating fetal Doppler parameters and maternal characteristics.

Objective: First-trimester screening for subsequent delivery of a small-for-gestational-age (SGA) infant typically focuses on maternal risk factors and uterine artery (UtA) Doppler. Our aim is to test if incorporation of fetal umbilical artery (UA) and ductus venosus (DV) Doppler improves SGA prediction.

Study Design: Prospective screening study of singletons at 11-14 weeks.