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Underdiagnosis of primary immunodeficiency disorders: Recognize and Educate

Award Number: R01MD017816
ORGANIZATION: NATIONAL CENTER ON MINORITY HEALTH AND HEALTH DISPARITIES
OPDIV: NIH
AWARD CLASS: DISCRETIONARY
AWARD ACTIVITY TYPE: SCIENTIFIC/HEALTH RESEARCH (INCLUDES SURVEYS)
PERIOD OF PERFORMANCE START DATE: 09/19/2022
PERIOD OF PERFORMANCE END DATE: 03/31/2028

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Underdiagnosis of primary immunodeficiency disorders: Recognize and Educate - Primary Immune Deficiency (PID) is a debilitating condition that affects one in 1,200 persons in the US. Growing evidence demonstrates that PID is underdiagnosed in the US and globally. Of note, prior to the implementation of population-wide newborn screening, severe combined immunodeficiency (SCID) was estimated to affect approximately 1 in 100,000 infants, with ~90% of identified cases occurring in non-Hispanic Whites3. Following the introduction of newborn screening, the observed incidence of SCID nearly doubled and cases were found to occur at similar rates across different ethnic groups5, suggesting significant disparities in diagnosis prior to universal screening. Underdiagnosis of PID is not confined to SCID, most of which cannot yet be detected through newborn screening. Delay in the treatment of PID can result in serious health consequences, including irreversible organ damage and death. There is therefore an urgent need to address gaps in the diagnosis of PID. Our long-term goal is to improve timely diagnosis and treatment of PID. To address disparities in the diagnosis of PID, we propose the following specific aims: (1) Identify patterns of diagnostic disparities in PID; (2) Identify factors contributing to diagnostic disparities in PID; and (3) pilot a targeted educational intervention aimed at increasing awareness of PID and the risk factors associated with its underdiagnosis. We will combine analyses of electronic health record (EHR) data (Aim 1) with qualitative analysis of patients’ experience and real-world perspectives from healthcare providers to understand the contributing factors of delayed PID diagnosis (Aim 2). Additionally, we will apply advanced machine learning analysis as an innovative approach to enable a more comprehensive understanding of the patterns of diagnostic delay. PID is a complex group of diseases with highly variable clinical manifestations. We anticipate that the application of machine learning methods to EHR data can facilitate identification of under-recognized patterns of diagnostic delay and will enable us to learn from large clinical datasets in a scalable manner. Integrating knowledge from these analyses, we will then develop and evaluate an educational outreach program targeting healthcare providers to raise awareness of PID and the risk factors associated with its underdiagnosis (Aim 3). The study will be conducted at 2 major healthcare systems in Massachusetts: Beth Israel Lahey Health and Boston Medical Center. This body of work represents the first systematic effort to investigate the patterns and contributing factors of diagnostic disparities in PID. The proposed educational outreach program will be the first educational initiative aimed at addressing PID diagnostic disparities in the US, and will provide a foundation towards our longer-term goal of designing and developing a regional/national educational program to improve diagnosis of PID.


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 = $785,639 )
2026	2026	CHILDREN'S HOSPITAL CORPORATION, THE	300 LONGWOOD AVE	BOSTON	MA	02115	SUFFOLK	USA	Minority Health and Health Disparities Research	002	5	6/11/2026	NON-COMPETING CONTINUATION	$785,639
2026	2024	HARVARD PILGRIM HEALTH CARE, INC.	1 WELLNESS WAY	CANTON	MA	02021	NORFOLK	USA	Minority Health and Health Disparities Research	000	3	12/23/2025	NON-COMPETING CONTINUATION	$0
2026	2024	CHILDREN'S HOSPITAL CORPORATION, THE	300 LONGWOOD AVE	BOSTON	MA	02115	SUFFOLK	USA	Minority Health and Health Disparities Research	001	4	5/15/2026	CHANGE OF GRANTEE / TRAINING INSTITUTION / AWARDING INSTITUTION	$0
														Subtotal = $785,639

Issue Date FY: 2025 ( Subtotal = $0 )
2025	2024	HARVARD PILGRIM HEALTH CARE INC	1 WELLNESS WAY	CANTON	MA	02021	NORFOLK	USA	Minority Health and Health Disparities Research	001	3	9/17/2025	NON-COMPETING CONTINUATION	-$782,526
2025	2024	CHILDREN'S HOSPITAL CORPORATION, THE	300 LONGWOOD AVE	BOSTON	MA	02115	SUFFOLK	USA	Minority Health and Health Disparities Research	000	4	9/12/2025	CHANGE OF GRANTEE / TRAINING INSTITUTION / AWARDING INSTITUTION	$782,526
														Subtotal = $0

Issue Date FY: 2024 ( Subtotal = $782,527 )
2024	2024	HARVARD PILGRIM HEALTH CARE INC	1 WELLNESS WAY	CANTON	MA	02021	NORFOLK	USA	Minority Health and Health Disparities Research	000	3	6/9/2024	NON-COMPETING CONTINUATION	$782,527
														Subtotal = $782,527

Issue Date FY: 2023 ( Subtotal = $779,681 )
2023	2023	HARVARD PILGRIM HEALTH CARE INC	1 WELLNESS WAY	CANTON	MA	02021	NORFOLK	USA	Minority Health and Health Disparities Research	001	2	5/6/2023	NON-COMPETING CONTINUATION	$779,681
2023	2022	HARVARD PILGRIM HEALTH CARE INC	1 WELLNESS WAY	CANTON	MA	02021	NORFOLK	USA	Minority Health and Health Disparities Research	000	1	12/5/2022	NEW	$0
														Subtotal = $779,681

Issue Date FY: 2022 ( Subtotal = $824,412 )
2022	2022	HARVARD PILGRIM HEALTH CARE INC	93 WORCESTER ST	WELLESLEY	MA	02481	NORFOLK	USA	Minority Health and Health Disparities Research	000	1	9/19/2022	NEW	$824,412
														Subtotal = $824,412

Grand Total All Awards = $3,172,259

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Underdiagnosis of primary immunodeficiency disorders: Recognize and Educate

Award Number: R01MD017816

ORGANIZATION: NATIONAL CENTER ON MINORITY HEALTH AND HEALTH DISPARITIES

OPDIV: NIH

AWARD CLASS: DISCRETIONARY

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

PERIOD OF PERFORMANCE START DATE: 09/19/2022

PERIOD OF PERFORMANCE END DATE: 03/31/2028

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