Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Diagnosis, treatment and disclosure: A qualitative exploration of participant challenges in a Monogenic Diabetes Registry.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Apr 2023

Noohi Forough, Sundaresan Manu S, Naylor Rochelle N, Ross Lainie Friedman

Abstract excerpt

PURPOSE: Maturity-onset diabetes of the young (MODY) represents a heterogenous group of monogenic diabetes. Despite its autosomal dominant inheritance, many MODY participants in the University of Chicago Monogenic Diabetes Registry have no family members enrolled. We aimed to gather data on the Registry participants' experiences in (1) receipt of an accurate diagnosis, (2) decisions regarding disclosure of their...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Diabetes Mellitus, Type 2
Share to Family

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Testing

Share to Mutation

Share to Registries

Source

Open in PubMed Open full text

Identifiers

PMID: 36681871
DOI: 10.1016/j.gim.2023.100019
PMCID: PMC10620612

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Diagnosis, treatment and disclosure: A qualitative exploration of participant challenges in a Monogenic Diabetes Registry.PMID 36681871Read ↗

Patient perspectives on the diagnostic journey to a monogenic diabetes diagnosis: Barriers and facilitators.Semantic proximity Read ↗

Primary Care Providers’ Perspectives on Receiving Tier 1 Genomic Results from a National Study – the Million Veteran Program Return Of Actionable Results (MVP-ROAR) StudySemantic proximity Read ↗

Healthcare professionals' experiences returning monogenic, polygenic, and integrated risk results in the eMERGE study.Semantic proximity Read ↗

An online monogenic diabetes discussion group: supporting families and fueling new research.Semantic proximity Read ↗

Genomics in nephrology: identifying informatics opportunities to improve diagnosis of genetic kidney disorders using a human-centered design approachSemantic proximity Read ↗

Model for Integration of Monogenic Diabetes Diagnosis Into Routine Care: The Personalized Diabetes Medicine Program.Semantic proximity Read ↗

The NYCKidSeq randomized controlled trial: Impact of GUÍA digitally enhanced genetic counseling in racially and ethnically diverse familiesSemantic proximity Read ↗

Beyond race: Recruitment of diverse participants in clinical genomics research for rare diseaseSemantic proximity Read ↗

For parents. Type 1 Diabetes TrialNet. From early detection to possible prevention.Semantic proximity Read ↗

Evaluation: A Qualitative Pilot Study of Novel Information Technology Infrastructure to Communicate Genetic Variant Updates.Semantic proximity Read ↗

The Impact of Living with Klinefelter Syndrome: A Qualitative Exploration of Adolescents and AdultsSemantic proximity Read ↗

The Current State of Spanish Language Resources for Patients with Rare Genetic Disease: Qualitative Expert Stakeholder InterviewsSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.