Dietary supplement use and documentation in a breast cancer survivorship clinic.

PURPOSE: Breast cancer survivors take vitamins and supplements to bolster their general health and to decrease the risk of cancer recurrence. Healthcare providers are frequently unaware of their patients non-prescription supplement use. The aim of this study was to study the type and the documentation of patients' dietary supplements and vitamins in the electronic medical record (EMR). METHODS: 50/51 female breast cancer survivors seen over a 7 week period consented to the study. Mean age was 70 and mean years since diagnosis was 13.9. Informed consent and documentation of supplement and vitamin use was obtained by the nurse practitioner the day before the visit. Study data were collected and managed using REDCap electronic data capture tools hosted at Weill Cornell Medicine. RESULTS: Of the 50 study patients, 90% were taking one or more vitamins and/or supplements (mean = 2.4, range = 1-9). The most common were Vitamin D, calcium, and vitamin C. Reasons for vitamin and supplement use included the recommendation by their physician or friend and prevention of bone loss or catching a cold. Five patients mentioned immunity or prevention of COVID-19. The patient reported list was compared with the medication list used by multiple providers in the electronic medical record (EMR). None of the 50 study patients had an accurate list of their vitamins and supplements in the EMR. CONCLUSION: 90% of the breast cancer survivors in our study were taking dietary supplements for a variety of reasons. None had an accurate list in the EMR. We strongly recommend more attention to accurate and easily accessed vitamin and supplement recording by providers.

Expanded Carrier Screening and the Complexity of Implementation.

Advances in genetic technology have allowed for the development of multiplex panels that can test for hundreds of genetic disorders at the same time; these large panels are referred to as expanded carrier screening. This process can screen couples for far more conditions than the gene-by-gene approach used with traditional carrier screening; however, although expanded carrier screening has been promoted as an efficient means of detecting many more disorders, the complexities of genetic sequencing raise substantial challenges and concerns. In our practice, we have seen a number of complex cases in which only attention to detail on the part of thorough genetic counselors allowed identification of misclassified variants that could have resulted in significant patient harm. We raise issues that require urgent attention by professional societies, including: whether to endorse testing that uses sequencing compared with genotyping; required components of pretest and posttest counseling; reclassification of variants; whether obstetric health care professionals have a responsibility to assure that patients understand the iterative process of variant interpretation and how it relates to carrier screening results; and the question of rescreening in subsequent pregnancies. Implementation of expanded carrier screening needs to be considered thoughtfully in light of the complexity of genetic sequencing and limited knowledge of genetics of most front-line obstetric health care professionals.

De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features.

TRAF7 is a multi-functional protein involved in diverse signaling pathways and cellular processes. The phenotypic consequence of germline TRAF7 variants remains unclear. Here we report missense variants in TRAF7 in seven unrelated individuals referred for clinical exome sequencing. The seven individuals share substantial phenotypic overlap, with developmental delay, congenital heart defects, limb and digital anomalies, and dysmorphic features emerging as key unifying features. The identified variants are de novo in six individuals and comprise four distinct missense changes, including a c.1964G>A (p.Arg655Gln) variant that is recurrent in four individuals. These variants affect evolutionarily conserved amino acids and are located in key functional domains. Gene-specific mutation rate analysis showed that the occurrence of the de novo variants in TRAF7 (p = 2.6 × 10-3) and the recurrent de novo c.1964G>A (p.Arg655Gln) variant (p = 1.9 × 10-8) in our exome cohort was unlikely to have occurred by chance. In vitro analyses of the observed TRAF7 mutations showed reduced ERK1/2 phosphorylation. Our findings suggest that missense mutations in TRAF7 are associated with a multisystem disorder and provide evidence of a role for TRAF7 in human development.