By Catherine A Brownstein and Joseph Gonzalez-Heydrich
Given the potential sensitivities associated with describing (i.e., phenotyping) patients with potentially stigmatizing psychiatric diagnoses, it is important to acknowledge and respect the wishes of the various parties involved.
The phenotypic description and depiction of a patient in the literature, although deidentified, may still be of great impact to a family.
By way of example, a novel genetic variant was identified as a likely explanation for the clinical presentation of a patient in a large cohort of individuals with neurodevelopmental and/or psychiatric phenotypes, a finding of great medical interest. The research team elected to further study this candidate and collected samples for functional evaluation of the gene variant and preparation of a case report.
Because the patient had a complicated phenotype, several physicians from various specialties were involved in the patient’s care. The paper draft was circulated amongst the collaborating clinicians and researchers and ultimately shared with the patient’s family by one of their involved caregivers. This is typically not a requirement of such studies, as the informed consent process includes the subjects’ understanding and consent for dissemination of deidentified results in the scientific literature. But as a general practice, families are informed about manuscripts in process, and in this case the family had requested to be kept abreast of ongoing developments.