Genetic counseling program remediation practices for students underperforming in clinical skills: An exploratory study.

Program-level clinical remediation in genetic counseling training programs aims to help students who are underperforming gain clinical skills to successfully manage clinical counseling sessions with patients. Student remediation often requires intervention, including discussions with program leadership and/or a formal remediation plan through the program. This study surveyed genetic counseling program leaders to explore the remediation landscape by identifying skills in which students underperformed, program remediation activities to improve skills, and remediation outcomes. Thirteen participants indicated their program required at least one student to complete program-level clinical remediation during the last 10 years. Eight of the 13 programs (61.5%) required at least one student to participate in clinical remediation for underperformance in professionalism, seven (53.8%) for underperformance in educating patients, six (46.2%) for underperformance in critical thinking, and two (15.4%) for underperformance in demonstrating empathy. Nineteen students were remediated for underperformance in critical thinking. Of those 19 students, one student (5.2%) was dismissed from the training program, and five students (26.3%) chose to withdraw from their program. One of 13 (7.7%) students remediated for underperformance in educating patients and one of 11 (9.1%) students remediated for underperformance in professionalism chose to withdraw from their programs. All students remediated for underperformance in demonstrating empathy successfully completed program-level clinical remediation and graduated. The most frequently endorsed factor positively associated with remediation success was completion of additional in-person patient encounters. The most frequent barrier was a student's poor mental health. Participants most frequently endorsed identification of resources for specific areas of remediation to improve their programs' efficacy in clinical remediation practices. This exploratory study provides valuable information describing clinical skills that require remediation in genetic counseling graduate training, the remediation practices utilized by training programs, and resources that may increase remediation success.

An apparent new syndrome of extreme short stature, microcephaly, dysmorphic faces, intellectual disability, and a bone dysplasia of unknown etiology.

We report on a 26-year-old male with extreme short stature, microcephaly, macroglossia, other dysmorphic features, severe intellectual disability, and a bone dysplasia. The patient had an extensive genetic and biochemical evaluation that was all normal or noninformative. Recently, the proband died following a period of not eating. He likely had a previously undescribed syndrome of unknown etiology.

A report of an apparent new genetic syndrome consisting of joint contractures, keloids, large optic cup-to-disc ratio and renal stones.

We report on a family with an apparently undescribed syndrome involving joint contractures, keloids, an increased optic cup-to-disc ratio, and renal stones. The propositus presented at 9 years of age with congenital contractures of his distal interphalangeal (DIP) joints, progressive stiffness of the shoulders and neck, a large optic cup-to-disc ratio, and mildly dysmorphic facies. He otherwise has been normal. The propositus's brother, uncle, great-uncle, a half great-uncle, and six male half-cousins once removed also have DIP joint stiffness. The propositus' mother and brother also have an increased optic cup-to-disc ratio. In addition, the great-grandfather, the uncle, the same six male half-cousins once removed, and an affected daughter of a half-cousin have keloids with the earliest age of onset of the keloids being 12 years. Further, three of the above affected males have had uric acid renal stones. Dupuytren contractures and subcutaneous nodules were also present in some affected males. Given the family history, the pattern of inheritance appears to be X-linked. An extensive literature search failed to reveal any previous reports associating these manifestations and this inheritance pattern. Therefore, we think the condition in this family comprises a new genetic syndrome.