Category Ranking
98%
Total Visits
921
Avg Visit Duration
2 minutes
Citations
20
Article Abstract
Purpose: It is essential that studies of genomic sequencing (GS) in newborns and children include individuals from under-represented racial and ethnic groups (URG) to ensure future applications are equitably implemented. We conducted interviews with parents from URG to better understand their perspectives on GS research, develop strategies to reduce barriers to enrollment, and facilitate research participation.
Methods: Semi-structured interviews with 50 parents from URG.
Results: Nearly all parents (44) said they would be interested in participating in an infant GS study. Parents were interested in participating in GS research for reasons including clinical utility, personal utility, and/or family health benefits. Deterrents to enrollment cited by parents were discomfort with enrollment procedures (e.g., not wanting a heel stick), limited emotional bandwidth, unfavorable perceptions of the study, and concerns about potential results. Most parents (35 of 40) said they would want to receive all types of genetic results, including actionable and non-actionable, as well as childhood- and adult-onset.
Conclusion: Our findings demonstrate that parents from URG are interested in participating in GS research. Based upon these findings, we provide recommendations for designing GS studies that are responsive to their concerns.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11482871 | PMC |
| http://dx.doi.org/10.1101/2024.10.01.24314717 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Abnormal Amyloid-β Duration, Tau, and Neurodegeneration in Cranial Images.
JAMA Netw Open
September 2025
School of Medicine and Public Health, University of Wisconsin-Madison, Madison.
Importance: It is unclear whether the duration of amyloid-β (Aβ) pathology is associated with neurodegeneration and whether this depends on the presence of tau.
Objective: To examine the association of longitudinal atrophy with Aβ positron emission tomography (PET)-positivity (Aβ+) and the estimated duration of Aβ+ (Aβ+ duration), controlling for tau-positivity.
Design, Setting, And Participants: Data for this longitudinal cohort study were drawn from the Wisconsin Registry for Alzheimer Prevention and the Wisconsin Alzheimer Disease Research Center Clinical Core Study.
Parent/caregiver perspectives of meaningful improvement in functional domains for people with CDKL5 deficiency disorder: a mixed-methods study.
Qual Life Res
September 2025
The Kids Research Institute Australia, The University of Western Australia, P.O. Box 855, West Perth, WA, 6872, Australia.
Purpose: CDKL5 deficiency disorder (CDD) is a rare developmental and epileptic encephalopathy. Greater understanding of the smallest meaningful improvements for individuals with CDD in clinical trials and practice is needed for a person-centred approach to treatment efficacy. This study explored how parent/caregivers of people with CDD understood meaningful improvements and described change for priority functional domains including communication, gross motor, fine motor, feeding.
View Article and Find Full Text PDFGambling in the Shadow of War: Evidence of Increased Problem Gambling for Men with Difficulties in Emotional Regulation During a Mass Trauma.
J Gambl Stud
September 2025
Department of Psychology and Azrieli Israel Center for Addiction and Mental Health, The Hebrew University of Jerusalem, Jerusalem, Israel.
Research suggests that Problem Gambling (PG) may result from maladaptive emotional regulation strategies aimed at escaping emotions and stress caused by negative life events and trauma. The current study, aimed to examine the effect of exposure to the mass trauma of October 7, 2023 terror attack and the consequent Swords of Iron war in Israel, and difficulties in emotional regulation on PG. We utilized longitudinal data of self-reports in the Problem Gambling Severity Index collected before the terror attack (April 2022) and during the Swords of Iron war (December 2023, March 2024, June 2024; N = 899) from a large sample of adult Jewish Israelis.
View Article and Find Full Text PDFManagement of ocular toxicity in patients with gynecologic cancer receiving novel antibody-drug conjugates: a narrative review.
Clin Transl Oncol
September 2025
Ophthalmology Unit, Cannizzaro Hospital, 95126, Catania, Italy.
Antibody-drug conjugates (ADCs) represent a promising therapeutic approach in gynecologic cancers, particularly ovarian and cervical malignancies. Agents such as mirvetuximab soravtansine, and tisotumab vedotin, targeting folate receptor alpha and tissue factor, respectively, reported clinical efficacy in patients with limited options. However, their use is associated with ocular toxicities, including keratopathy, blurred vision, and dry eye, which may impact adherence and quality of life.
View Article and Find Full Text PDFCharacterization and Development of Salt-Resistant Aspergillus oryzae for Marine-Derived Enzyme Expression.
Appl Biochem Biotechnol
September 2025
State Key Laboratory of Bioreactor Engineering, East China University of Science and Technology, Shanghai, China.
Marine-derived enzymes often show distinct physiological properties and great potential for industrial use. Salt ions may improve the stability and expression efficiency of marine enzymes, which requires salt-resistant host based expression platform. Aspergillus oryzae of good protein expression and secretion was evaluated and explored for this purpose.
View Article and Find Full Text PDF