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Newborn Screening Follow Up in Rural Indiana: A 10-year Retrospective Review

Health Services and Implementation
  • Primary Categories:
    • Health Care Inequities and health disparities
  • Secondary Categories:
    • Health Care Inequities and health disparities
Introduction:
In June 2013, the Das KIND (Knowledge & Intervention through Newborn Diagnosis) program was developed and established at the Community Health Clinic (CHC), a non-profit rural genetics clinic in Northern Indiana, with intentions of addressing barriers to care for children affected with inborn errors of metabolism (IEM) from the Plain community. The CHC partnered with the Indiana Department of Health (IDH) and Newborn Screening (NBS) Lab to provide follow up services for infants with abnormal newborn screening. Through this initiative, the CHC provided follow-up for IEMs detected on NBS for 11 counties in Northern Indiana. 



Indiana is home to the third largest Plain population in the world.  Due to the founder effect and cultural practices, there is higher incidence of rare recessive disorders in Old Oder Amish and Mennonite communities, many of which are included in NBS.  There are several barriers to care including communication, transportation, financial, and culture. Communication barriers include a lack of telephones in the home, English as a second language, formal education ending in 8th grade, and decreased health literacy. Plain families face transportation barriers due to lack of local specialists in rural areas and opposition to driving vehicles. The steep cost of care for rare NBS diseases combined with the Plain community’s opposition to health insurance results in additional stress for affected Plain families and has led some to compromise religious values to access needed care or resulted in some foregoing the recommended treatment. Due to founder effect, consanguinity, and large family sizes, Plain newborns account for a significant portion of newborns with confirmed IEMs after a positive NBS in the state of Indiana.

 

Methods:
Ten years since its inception, the CHC Das KIND program has grown to serve 19 counties across Indiana for IEM, severe combined immunodeficiency (SCID), spinal muscular atrophy (SMA), and X-linked adrenoleukodystrophy (XALD) with 526 referrals from the Indiana NBS Lab. A retrospective review of data from the first 10 years reveals higher incidence of diagnosis within the Plain community. 

Results:
Fifty percent (50%) of all Plain newborns referred with an abnormal screening are confirmed true positives compared to twenty two percent (22%) of non-Plain newborns. Data provided by the Indiana NBS lab was compared to CHC data, revealing higher incidence of NBS disorders in Plain infants. Fifty percent (50%) of all confirmed positive IEM cases in the state are within the CHC catchment area. One hundred percent (100%) of all infants with SCID are from the 19 counties as well. 

Conclusion:
The strategic location of the CHC along with employing an outreach nurse, has allowed the Das KIND program to consistently establish contact with parents and primary care providers within 24 hours of an abnormal newborn screen except for rare occasions. In addition, access to rapid and affordable targeted variant analysis has helped shorten the confirmatory testing phase to just a few days, sometimes less than 24 hours. Knowledge of the population genetics and genotype-phenotype correlations has allowed the CHC team to easily provide personalized medicine. The success of this program over its first ten years of operation highlights the need for similar rural programs that can address then needs for those who are underserved and vulnerable. 

Agenda

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