Host perspectives on international fieldwork placements for U.S.-based genetic counseling students.

Genetic counseling students from the United States are often interested in international summer fieldwork placements, but little is known about the hosts' perspectives when considering such requests. We sent out surveys to 132 international genetics providers (genetics clinics and genetics programs), to identify advantages, barriers and expectations for U.S.-based genetic counseling students seeking a fieldwork placement. Twenty-seven (20.4% response rate) participants from 14 different countries shared their experiences and views. Providers placed higher emphasis on teaching and benefits to students (95.2%) rather than intrinsic benefits to their programs (90.4%). Lack of American Board of Genetic Counseling's (ABGC) reciprocal recognition (30%) and cost of training (25%), were rated as the strongest barriers to hosting U.S.-based students. Surprisingly, 'Language Barrier' (20%), although mentioned in open-ended comments, was not ranked highly as a barrier. When asked about expectations of students, active participation in student-led counseling sessions under supervision was encouraged by a majority of participants (55.6%). Where most genetic counseling literature is U.S.-centric, this study reports on insights gathered from international genetics providers. Our study encourages U.S.-based programs to consider these findings when designing exchange programs and international fieldwork placements.

Developing a genetic services assessment tool to inform quality improvement efforts in state genetic service delivery.

PURPOSE: The Institute of Medicine recommended the utilization of metrics to improve quality in health care, although they have rarely been used in genetics. This study developed and tested a set of metrics for a quality assessment tool for genetic services METHODS: A systematic review of literature, guidelines, and consensus statements identified candidate measures for a possible assessment tool. An expert panel conducted a modified Delphi technique to rank the metrics. Ratings were computed to generate a score for each metric, creating a set of metrics for consensus discussions, pilot testing, and feasibility testing in eight Midwestern states. RESULTS: The panel reduced 61 candidate metrics to 21 for pilot testing in two states, which further limited and refined the set to 16 metrics. These 16 were categorized into five domains: service capacity, access to care, data systems, performance reporting, and workforce. Further feasibility testing in one Regional Genetics Collaborative identified the tool's usefulness and barriers to implementation. CONCLUSIONS: These quality metrics for both clinical and public health genetics across the lifespan may help medical professionals and policymakers evaluate quality and cost-effectiveness of genetic services on a statewide basis and stimulate outcome-oriented, health services research in medical genetics and genomics.

Genotype-phenotype analysis in congenital adrenal hyperplasia due to P450 oxidoreductase deficiency.

CONTEXT: P450 oxidoreductase deficiency (PORD) is a unique congenital adrenal hyperplasia variant that manifests with glucocorticoid deficiency, disordered sex development (DSD), and skeletal malformations. No comprehensive data on genotype-phenotype correlations in Caucasian patients are available. OBJECTIVE: The objective of the study was to establish genotype-phenotype correlations in a large PORD cohort. DESIGN: The design of the study was the clinical, biochemical, and genetic assessment including multiplex ligation-dependent probe amplification (MLPA) in 30 PORD patients from 11 countries. RESULTS: We identified 23 P450 oxidoreductase (POR) mutations (14 novel) including an exonic deletion and a partial duplication detected by MLPA. Only 22% of unrelated patients carried homozygous POR mutations. p.A287P was the most common mutation (43% of unrelated alleles); no other hot spot was identified. Urinary steroid profiling showed characteristic PORD metabolomes with variable impairment of 17α-hydroxylase and 21-hydroxylase. Short cosyntropin testing revealed adrenal insufficiency in 89%. DSD was present in 15 of 18 46,XX and seven of 12 46,XY individuals. Homozygosity for p.A287P was invariably associated with 46,XX DSD but normal genitalia in 46,XY individuals. The majority of patients with mild to moderate skeletal malformations, assessed by a novel scoring system, were compound heterozygous for missense mutations, whereas nearly all patients with severe malformations carried a major loss-of-function defect on one of the affected alleles. CONCLUSIONS: We report clinical, biochemical, and genetic findings in a large PORD cohort and show that MLPA is a useful addition to POR mutation analysis. Homozygosity for the most frequent mutation in Caucasians, p.A287P, allows for prediction of genital phenotype and moderate malformations. Adrenal insufficiency is frequent, easily overlooked, but readily detected by cosyntropin testing.

Quality assurance in medical and public health genetics services: a systematic review.

As genetic services grow in scope, issues of quality assessment in genetic services are emerging. These efforts are well developed for molecular and cytogenetic testing and laboratories, and newborn screening programs, but assessing quality in clinical services has lagged, perhaps owing to the small work force and the recent evolution from a few large training programs to multiple training sites. We surveyed the English language, peer-reviewed literature to summarize the knowledge-base of quality assessment of genetics services, organized into the tripartite categories of the Donabedian model of "structure," "process," and "outcome." MEDLINE searches from 1990 to July 2008, yielded 2,143 articles that addressed both "medical/genetic screening and counseling" and "quality indicators, control, and assurance." Of the 2,143 titles, 131 articles were extracted for in-depth analysis, and 55 were included in this review. Twenty-nine articles focused on structure, 19 on process, and seven on outcomes. Our review underscored the urgent need for a coherent model that will provide health care organizations with tools to assess, report, monitor, and improve quality. The structure, process, and outcomes domains that make up the quality framework provide a comprehensive lens through which to examine quality in medical genetics.