A B S T R A C T PurposeAlthough guidelines recommend in-person counseling before BRCA1/BRCA2 gene testing, genetic counseling is increasingly offered by telephone. As genomic testing becomes more common, evaluating alternative delivery approaches becomes increasingly salient. We tested whether telephone delivery of BRCA1/2 genetic counseling was noninferior to in-person delivery. Patients and MethodsParticipants (women age 21 to 85 years who did not have newly diagnosed or metastatic cancer and lived within a study site catchment area) were randomly assigned to usual care (UC; n ϭ 334) or telephone counseling (TC; n ϭ 335). UC participants received in-person pre-and post-test counseling; TC participants completed all counseling by telephone. Primary outcomes were knowledge, satisfaction, decision conflict, distress, and quality of life; secondary outcomes were equivalence of BRCA1/2 test uptake and costs of delivering TC versus UC. ResultsTC was noninferior to UC on all primary outcomes. At 2 weeks after pretest counseling, knowledge (d ϭ 0.03; lower bound of 97.5% CI, Ϫ0.61), perceived stress (d ϭ Ϫ0.12; upper bound of 97.5% CI, 0.21), and satisfaction (d ϭ Ϫ0.16; lower bound of 97.5% CI, Ϫ0.70) had group differences and confidence intervals that did not cross their 1-point noninferiority limits. Decision conflict (d ϭ 1.1; upper bound of 97.5% CI, 3.3) and cancer distress (d ϭ Ϫ1.6; upper bound of 97.5% CI, 0.27) did not cross their 4-point noninferiority limit. Results were comparable at 3 months. TC was not equivalent to UC on BRCA1/2 test uptake (UC, 90.1%; TC, 84.2%). TC yielded cost savings of $114 per patient. ConclusionGenetic counseling can be effectively and efficiently delivered via telephone to increase access and decrease costs. J Clin

Purpose:Germ-line testing for panels of cancer genes using next-generation sequencing is becoming more common in clinical care. We report our experience as a clinical laboratory testing both well-established, high-risk cancer genes (e.g., BRCA1/2, MLH1, MSH2) as well as more recently identified cancer genes (e.g., PALB2, BRIP1), many of which have increased but less well-defined penetrance.Genet Med 18 8, 823–832.Methods:Clinical genetic testing was performed on over 10,000 consecutive cases referred for evaluation of germ-line cancer genes, and results were analyzed for frequency of pathogenic or likely pathogenic variants, and were stratified by testing panel, gene, and clinical history.Genet Med 18 8, 823–832.Results:Overall, a molecular diagnosis was made in 9.0% of patients tested, with the highest yield in the Lynch syndrome/colorectal cancer panel. In patients with breast, ovarian, or colon/stomach cancer, positive yields were 9.7, 13.4, and 14.8%, respectively. Approximately half of the pathogenic variants identified in patients with breast or ovarian cancer were in genes other than BRCA1/2.Genet Med 18 8, 823–832.Conclusion:The high frequency of positive results in a wide range of cancer genes, including those of high penetrance and with clinical care guidelines, underscores both the genetic heterogeneity of hereditary cancer and the usefulness of multigene panels over genetic tests of one or two genes.Genet Med 18 8, 823–832.

This study investigated the experience of receiving a diagnosis of clefting in the prenatal or postnatal period. Open-ended interviews were conducted with 20 parents of children with cleft lip with or without cleft palate. Interviews were transcribed and analyzed using a qualitative descriptive approach with an emphasis on thematic analysis. Common themes emerged from participants' responses regarding the delivery of the diagnosis, preparation for the birth of their child, advantages and disadvantages of prenatal diagnosis, use of the Internet, views on abortion and genetic testing, among other issues. All participants in the prenatal group indicated they were satisfied they learned of the cleft before the birth of their child. Some participants in the postnatal group would rather have received the diagnosis prenatally, while others were content with learning of the diagnosis in the delivery room. Greater awareness of the parental experience of the timing of receiving a cleft diagnosis may assist health care professionals in providing care for these families.

Telephone genetic counseling (TC) for hereditary breast/ovarian cancer risk has been associated with positive outcomes in high risk women. However, little is known about how patients perceive TC. As part of a randomized trial of TC versus usual care (UC; in-person genetic counseling), we compared high risk women’s perceptions of: (1) overall satisfaction with genetic counseling; (2) convenience; (3) attentiveness during the session; (4) counselor effectiveness in providing support; and (5) counselor ability to recognize emotional responses during the session. Among the 554 participants (TC, N=272; UC, N=282), delivery mode was not associated with self-reported satisfaction. However, TC participants found counseling significantly more convenient than UC participants (OR = 4.78, 95% CI = 3.32, 6.89) while also perceiving lower levels of support (OR=0.56, 95% CI=0.40–0.80) and emotional recognition (OR = 0.53, 95% CI = 0.37–0.76). In exploratory analyses, we found that non-Hispanic white participants reported higher counselor support in UC than in TC (69.4% vs. 52.8%; OR = 3.06, 95% CI = 1.39–6.74), while minority women perceived less support in UC vs. TC (58.3% vs. 38.7%; OR = 0.80, 95% CI = 0.39–1.65). We discuss potential research and practice implications of these findings which may further improve the effectiveness and utilization of TC.