Disclosing the “Inclusion Benefit”

Disclosing Secondary Findings from Pediatric Sequencing to Families: Considering the "Benefit to Families".

Secondary findings for adult-onset diseases in pediatric clinical sequencing can benefit parents or other family members. In the absence of data showing harm, it is ethically reasonable for parents to request such information, because in other types of medical decision-making, they are often given discretion unless their decisions clearly harm the child. Some parents might not want this informa...

How inclusion of genetic counselors on the research team can benefit translational science.

Translational research in medicine is necessarily a team-based endeavor, and, indeed, translational research teams often include researchers from many different disciplines. We outline some of the practical challenges that are particularly salient to translational research, both for scientists and study participants, and propose that genetic counselors--a group of specialty-trained health care ...

Chorea disclosing a polycythemia vera

Chorea is a rare complication of polycythemia. We report the case of a 70 year-old woman whose polycythemia vera (PV), with Janus Kinase-2 (JAK2) mutation, presented as chorea. Chorea resolved quickly after hydroxyurea therapy.

Disclosing error to a patient.

Epidermal inclusion cysts of the breast

AbstractEpidermal inclusion cysts are uncommon in the breast, but the consequences can besevere when these cysts occur in the breast parenchyma. Here, we report two suchcases. The patient in case 1 was an 37-year-old woman with a 3-cm palpable mass inthe right breast. Mammography revealed a round and smoothly outlined mass, whichindicated a benign tumor, and sonography showed an irregularly sha...