Background Breast cancer (BC) disparities may widen with genomic advances. We compared non-Hispanic white (NHW), Black, and Hispanic BC survivors for: 1) cancer risk management practices (CRM) among BRCA carriers; and 2) provider discussion and receipt of genetic testing. Methods A population-based sample of NHW, Black, and Hispanic women diagnosed with invasive BC ≤ age 50 in 2009–2012 were recruited through the state cancer registry. Using multiple logistic regression we compared CRM in BRCA carriers and association of demographic and clinical variables with provider discussion and receipt of testing. Results Of the 1622 participants, 36.1% (159/440) Blacks, 64.5% (579/897) NHW, 49.6% (58/117) Spanish-speaking Hispanics, and 69.0% (116/168) English-speaking Hispanics had BRCA testing, of whom 90 had a pathogenic BRCA mutation. Among BRCA carriers, RRM and RRSO rates were significantly lower among Blacks compared to Hispanics and NHW after controlling clinical and demographic variables (p=0.025 and 0.008, respectively). Compared to NHW, discussion of genetic testing with a provider was 16 times less likely among Blacks (p<0.0001) and nearly two times less likely among Spanish-speaking Hispanics (p=0.04) after controlling clinical and sociodemographic factors. Conclusions Our results suggest lower rates of RRSO among Black compared to Hispanic and NHW BRCA carriers, which is concerning as benefits from genetic testing arise from CRM options. Furthermore, lower BRCA testing rates among Blacks may partially be due to lower likelihood of provider discussion. Future studies are needed to improve cancer risk identification and management practices across all populations to prevent the widening of disparities.

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.

As healthcare reimbursement is increasingly tied to value-of-service, it is critical for the genetic counselor (GC) profession to demonstrate the value added by GCs through outcomes research. We conducted a rapid systematic literature review to identify outcomes of genetic counseling. Web of Science (including PubMed) and CINAHL databases were systematically searched to identify articles meeting the following criteria: 1) measures were assessed before and after genetic counseling (pre-post design) or comparisons were made between a GC group vs. a non-GC group (comparative cohort design); 2) genetic counseling outcomes could be assessed independently of genetic testing outcomes, and 3) genetic counseling was conducted by masters-level genetic counselors, or non-physician providers. Twenty-three papers met the inclusion criteria. The majority of studies were in the cancer genetic setting and the most commonly measured outcomes included knowledge, anxiety or distress, satisfaction, perceived risk, genetic testing (intentions or receipt), health behaviors, and decisional conflict. Results suggest that genetic counseling can lead to increased knowledge, perceived personal control, positive health behaviors, and improved risk perception accuracy as well as decreases in anxiety, cancer-related worry, and decisional conflict. However, further studies are needed to evaluate a wider array of outcomes in more diverse genetic counseling settings.