Experiences of United States genetic counseling supervisors regarding race/ethnicity in supervision: A qualitative investigation.

While addressing culture in supervision is important, research suggests genetic counseling supervisors are unsure how to discuss it within the supervisory relationship. This study explored the perceptions of genetic counselor supervisors from the United States regarding how their supervisors approached racial/ethnic differences in their supervisory relationships when they were students, effects on those relationships, and subsequent influences on their supervision practices. Nine genetic counselors who self-identified as White/Caucasian, and nine who self-identified as racial/ethnic backgrounds other than White/Caucasian, were purposively recruited to participate in semi-structured phone interviews. Questions explored participant perceptions of how their supervisors approached racial/ethnic differences in supervision, effects on those supervisory relationships, and influences of their experiences as students on their current supervision practice. Thematic analysis revealed four major themes, with most participants agreeing that (1) recognition of race/ethnicity in supervision was limited as a student and in their current supervision practices; (2) supervisors vary in their comfort discussing race/ethnicity; (3) prior student supervision experiences of racial/ethnic differences have limited effects on current supervision practice; and (4) supervisors desire more training in how to approach conversations around race/ethnicity. Further professional discussions about the role of race/ethnicity in the supervisory relationship and training in addressing the cultural context in supervision are needed.

Long-Term Efficacy of T3 Analogue Triac in Children and Adults With MCT8 Deficiency: A Real-Life Retrospective Cohort Study.

CONTEXT: Patients with mutations in thyroid hormone transporter MCT8 have developmental delay and chronic thyrotoxicosis associated with being underweight and having cardiovascular dysfunction. OBJECTIVE: Our previous trial showed improvement of key clinical and biochemical features during 1-year treatment with the T3 analogue Triac, but long-term follow-up data are needed. METHODS: In this real-life retrospective cohort study, we investigated the efficacy of Triac in MCT8-deficient patients in 33 sites. The primary endpoint was change in serum T3 concentrations from baseline to last available measurement. Secondary endpoints were changes in other thyroid parameters, anthropometric parameters, heart rate, and biochemical markers of thyroid hormone action. RESULTS: From October 15, 2014 to January 1, 2021, 67 patients (median baseline age 4.6 years; range, 0.5-66) were treated up to 6 years (median 2.2 years; range, 0.2-6.2). Mean T3 concentrations decreased from 4.58 (SD 1.11) to 1.66 (0.69) nmol/L (mean decrease 2.92 nmol/L; 95% CI, 2.61-3.23; P < 0.0001; target 1.4-2.5 nmol/L). Body-weight-for-age exceeded that of untreated historical controls (mean difference 0.72 SD; 95% CI, 0.36-1.09; P = 0.0002). Heart-rate-for-age decreased (mean difference 0.64 SD; 95% CI, 0.29-0.98; P = 0.0005). SHBG concentrations decreased from 245 (99) to 209 (92) nmol/L (mean decrease 36 nmol/L; 95% CI, 16-57; P = 0.0008). Mean creatinine concentrations increased from 32 (11) to 39 (13) µmol/L (mean increase 7 µmol/L; 95% CI, 6-9; P < 0.0001). Mean creatine kinase concentrations did not significantly change. No drug-related severe adverse events were reported. CONCLUSIONS: Key features were sustainably alleviated in patients with MCT8 deficiency across all ages, highlighting the real-life potential of Triac for MCT8 deficiency.