Within the myriad articles about participants' opinions of genomics research, the views of a
distinct group–people with a rare disease (RD)–are unknown. It is important to understand if …

Abstract The International Rare Diseases Research Consortium (IRDiRC) has created a
quality label,'IRDiRC Recognized Resources', formerly known as 'IRDiRC Recommended'. It …

Background The needs and benefits of sharing health data to advance scientific research
and improve clinical benefits have been well documented in recent years, specifically in the …

With large-scale genome sequencing initiatives underway, vast amounts of genomic data
are being generated. Results—including secondary findings (SF)—are being returned …

There is a growing international agreement on the need to provide greater access to
research data and bio-specimen collections to optimize their long-term value and exploit …

In this paper, we present findings from a project involving 20 patients with rare diseases, or
parents thereof, participating in the 100,000 genomes project (100 kG P). We explored their …

In rare disease (RD) research, there is a huge need to systematically collect biomaterials,
phenotypic, and genomic data in a standardized way and to make them findable, accessible …

The increased international sharing of data in research consortia and the introduction of new
technologies for sequencing challenge the informed consent (IC) process, adding …

With new tools derived from the Human Genome Project, genetic research is expanding
from the study of rare, single gene disorders to the evaluation of genetic contributors to …

Purpose: Despite recent attention to increasing diversity in clinical genomics research,
researchers still struggle to recruit participants from varied sociodemographic backgrounds …