bims-curels 2023-04-09 papers

Zhonghua Er Ke Za Zhi. 2023 Apr 02. 61(4): 381-383

J Palliat Med. 2023 Apr;26(4): 599-600

More Than You Can Handle: A Rare Disease, a Family in Crisis, and the Cutting-Edge Medicine That Cured the Incurable.

DOI: https://doi.org/10.1089/jpm.2022.0521

Cancer. 2023 Apr 03.

Rare disease research powered by empowered patients: solving the zebra puzzle through social media.

PLAIN LANGUAGE SUMMARY: Social media platforms like Facebook and Twitter have revolutionized rare disease research and have catalyzed the connection among patients with rare cancers. A new study from the Germ Cell Tumor Survivor Sisters Facebook group provides evidence of the utility of naturally forming patient groups assisting researchers with developing the evidence base for care and supporting those living with the disease. Such studies are the first steps in rare disease research powered by empowered patients by solving the zebra rare disease puzzle through social media.

DOI: https://doi.org/10.1002/cncr.34765

J Genet Couns. 2023 Apr 02.

Unraveling non-participation in genomic research: A complex interplay of barriers, facilitators, and sociocultural factors.

Undiagnosed Diseases Network

Although genomic research offering next-generation sequencing (NGS) has increased the diagnoses of rare/ultra-rare disorders, populations experiencing health disparities infrequently participate in these studies. The factors underlying non-participation would most reliably be ascertained from individuals who have had the opportunity to participate, but decline. We thus enrolled parents of children and adult probands with undiagnosed disorders who had declined genomic research offering NGS with return of results with undiagnosed disorders (Decliners, n = 21) and compared their data to those who participated (Participants, n = 31). We assessed: (1) practical barriers and facilitators, (2) sociocultural factors-genomic knowledge and distrust, and (3) the value placed upon a diagnosis by those who declined participation. The primary findings were that residence in rural and medically underserved areas (MUA) and higher number of barriers were significantly associated with declining participation in the study. Exploratory analyses revealed multiple co-occurring practical barriers, greater emotional exhaustion and research hesitancy in the parents in the Decliner group compared to the Participants, with both groups identifying a similar number of facilitators. The parents in the Decliner group also had lower genomic knowledge, but distrust of clinical research was not different between the groups. Importantly, despite their non-participation, those in the Decliner group indicated an interest in obtaining a diagnosis and expressed confidence in being able to emotionally manage the ensuing results. Study findings support the concept that some families who decline participation in diagnostic genomic research may be experiencing pile-up with exhaustion of family resources - making participation in the genomic research difficult. This study highlights the complexity of the factors that underlie non-participation in clinically relevant NGS research. Thus, approaches to mitigating barriers to NGS research participation by populations experiencing health disparities need to be multi-pronged and tailored so that they can benefit from state-of -the art genomic technologies.

Keywords: disparities; exome and genome sequencing; genetic counseling; genomic research; parent; underrepresented populations

DOI: https://doi.org/10.1002/jgc4.1707