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Community Evaluation of Family-Level Implication of Personal Utility and Disutility of Emergent Point-of-Care Testing for Early Diagnosis of Sickle Cell Disease in Newborns in Primary Care Centers

Award Number: R03HG014067
ORGANIZATION: NATIONAL HUMAN GENOME RESEARCH INSTITUTE
OPDIV: NIH
AWARD CLASS: DISCRETIONARY
AWARD ACTIVITY TYPE: SCIENTIFIC/HEALTH RESEARCH (INCLUDES SURVEYS)
PERIOD OF PERFORMANCE START DATE: 08/01/2026
PERIOD OF PERFORMANCE END DATE: 07/31/2028

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Community Evaluation of Family-Level Implication of Personal Utility and Disutility of Emergent Point-of-Care Testing for Early Diagnosis of Sickle Cell Disease in Newborns in Primary Care Centers - ABSTRACT: Personal utility, an evolving, multifaceted construct used to characterize the well-documented non-clinical effects of genetic testing on patients and their families, is rapidly gaining attention as a legitimate evaluation parameter for genetic tests. A conceptual framework by Kohler et al highlighting distinct domains of the construct provides a robust conceptual lens to better understand patient and family preferences for genetic testing. However, because the current understanding of the construct is disproportionately based on studies conducted in the USA and a few Western nations, if, how, and when these domains manifest in different sociocultural contexts and patient populations have not been well characterized. To this end, using Kohler et al.’s personal utility framework, we will explore the personal utility of genetic testing for sickle cell disease in young children in a non-Western region. We focus on sickle cell disease (SCD) due to its high prevalence and childhood morbidity and mortality rates in the absence of universal newborn screening and preventive care programs in sub-Saharan Africa. Our goal is to catalog what is important to caregivers of infants regarding genetic testing for SCD, with a focus on family-level considerations. Our scientific questions of interest are: (1)what family-level characteristics influenced caregivers’ decision-making about genetic testing for their child and shaped their overall experience of the testing process; and (2) do caregivers perceive a broader range of benefits and potential harms of genetic testing for SCD diagnosis? Two specific aims undergird the study: (1) Conduct formative research to quantify the key drivers of family-level utility and disutility of genetic testing for early diagnosis of SCD, and (2) Conduct formative research to assess caregivers-reported follow-up and actions initiated based on their child’s genetic test results. We will conduct a mixed methods, translational pilot study in one urban and one rural primary health center in Sierra Leone, a SCD endemic country to obtain information on the knowledge, beliefs, and attitudes of caregivers toward genetic testing, to understand how these relate to an interest in pursuing an early diagnosis of SCD in their newborns, and to determine how they use the results inside and outside of primary care settings. The Bioethics and Legal Workgroup of the Newborn Screening and Translational Research Network recommends the integration of important ethical, legal, and social implications of genetic testing into pilot studies to add to the evaluation evidence base to guide better practice decisions and informed policy. We expect our study to (1) map and expand on Kohler et al’s domains of personal utility and their role in decision-making or adaptation to results, (2) expand our understanding of personal utility and disutilities in families in sociocultural settings that are naïve to genetic testing. Our study is a critical step in (3) amassing evidence about the prevalence of elements of personal utility crucial for designing a global scale for evaluating the construct, and (4) our study methods will contribute to an evidence base that will inform the design of health programs better equipped to engage and support families receiving genetic information while navigating pediatric illness and medical decision making.


Issue Date FY	Funding FY	Legal Entity Name	Legal Entity Address	Legal Entity City	Legal Entity State	Legal Entity Zip Code	Legal Entity COUNTY	Legal Entity COUNTRY	Assistance Listing	Award Code	Budget Year	Action Date	Action Type	Action Amount

Issue Date FY: 2026 ( Subtotal = $150,000 )
2026	2026	UNIVERSITY OF SOUTH FLORIDA	4202 E FOWLER AVE	TAMPA	FL	33620	HILLSBOROUGH	USA	Human Genome Research	000	1	8/4/2026	NEW	$150,000
														Subtotal = $150,000

Grand Total All Awards = $150,000

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Community Evaluation of Family-Level Implication of Personal Utility and Disutility of Emergent Point-of-Care Testing for Early Diagnosis of Sickle Cell Disease in Newborns in Primary Care Centers

Award Number: R03HG014067

ORGANIZATION: NATIONAL HUMAN GENOME RESEARCH INSTITUTE

OPDIV: NIH

AWARD CLASS: DISCRETIONARY

AWARD ACTIVITY TYPE: SCIENTIFIC/HEALTH RESEARCH (INCLUDES SURVEYS)

PERIOD OF PERFORMANCE START DATE: 08/01/2026

PERIOD OF PERFORMANCE END DATE: 07/31/2028

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