RESUMEN
The increasing availability of novel therapies highlights the importance of screening newborns for rare genetic disorders so that they may benefit from early therapy, when it is most likely to be effective. Pilot newborn screening (NBS) studies are a way to gather objective evidence about the feasibility and utility of screening, the accuracy of screening assays, and the incidence of disease. They are also an optimal way to evaluate the complex ethical, legal and social implications (ELSI) that accompany NBS expansion for disorders. ScreenPlus is a consented pilot NBS program that aims to enroll over 100,000 infants across New York City. The initial ScreenPlus panel includes 14 disorders and uses an analyte-based, multi-tiered screening platform in an effort to enhance screening accuracy. Infants who receive an abnormal result are referred to a ScreenPlus provider for confirmatory testing, management, and therapy as needed, along with longitudinal capture of outcome data. Participation in ScreenPlus requires parental consent, which is obtained in active and passive manners. Patient-facing documents are translated into the ten most common languages spoken at our nine pilot hospitals, all of which serve diverse communities. At the time of consent, parents are invited to receive a series of online surveys to capture their opinions about specific ELSI-related topics, such as NBS policy, residual dried blood spot retention, and the types of disorders that should be on NBS panels. ScreenPlus has developed a stakeholder-based, collective funding model that includes federal support in addition to funding from 14 advocacy and industry sponsors, all of which have a particular interest in NBS for at least one of the ScreenPlus disorders. Taken together, ScreenPlus is a model, multi-sponsored pilot NBS program that will provide critical data about NBS for a broad panel of disorders, while gathering key stakeholder opinions to help guide ethically sensitive decision-making about NBS expansion.
RESUMEN
Inclusion of multiple viewpoints increases when teams are diverse and provides value in scientific communication and discovery. To promote retention and raise the critical mass of underrepresented persons in science, all voices must be heard "at the table" to include "ways of knowing" outside the dominant institutional culture. These community-based inclusive concepts promote hearing all diverse perspectives for inclusive recognition of deeper socio-historical cultural wealth-collectively termed cultural wellness. When undergraduates and graduates in active-learning groups in class, or faculty collaborative teams on campus, start a project too quickly on task, opportunities are missed to be inclusive. While beginning a larger science project, we, student and faculty co-authors, first addressed this challenge -the need for greater inclusion of diverse perspectives-by starting a conversation. Here, we share ideas from our inclusive process. Based on social constructivist theories of co-constructing learning interpersonally, we co-mentored each other, learning from one another in community. We experientially considered how to inclusively collaborate across a demographically, geographically, and structurally heterogeneous group including multiple academic tiers from multiple ethnic backgrounds, cultural experiences, and institutions. Through an asset-based process grounded in several frameworks, we documented our introduction process of listening deeply, being mindful of identities including invisible cultural identities, recognizing each other with mutual respect, applying inclusive practices, and developing mutual trust and understanding. Building community takes time. Initial conversations can, and should, go deeper than mere introductions to build trust beyond social norms for relationships promoting cultural wellness.
