An Innovative Approach to Overcome Healthcare
Disparities in the Indiana Plain Communities
Rebecca
1
Chris
1,2
Roberson ,
Dennis
Glen
2
Hershberger ,
and Amy
1,2
Shapiro
Indiana Hemophilia & Thrombosis Center, Inc. Indianapolis, IN, USA, 2 The Community Health Clinic, Inc. Topeka, IN, USACTH
Introduction
Results
Indiana has the third largest Plain settlement in the world with over 46,000 Amish
and Mennonite community members. Plain communities tend to maintain a socially
insular lifestyle. A founder effect and endogamy result in a high concentration of
autosomal recessive disorders1, 2.
Most Plain communities experience major barriers to healthcare, including lack of
insurance, proscription against operating mechanized vehicles for travel, and absence of
local physicians with expertise in genetic disorders3,4. These obstacles often lead families
to delay or not seek needed medical care, which increases morbidity and mortality. To
address these issues, the northern Indiana Plain community and the Indiana Hemophilia
& Thrombosis Center, Inc. (IHTC) formed the Community Health Clinic, Inc. (CHC); an
Amish majority-governed, non-profit medical program to provide comprehensive care for
individuals with metabolic and other genetic diseases.
Objectives
This innovative program will provide culturally-sensitive care for the Indiana
Plain community and address healthcare disparities via four mechanisms:
1.
2.
3.
4.
2
Lehman ,
Offering cost-contained, locally-available specialty care,
Increasing access to prescription medications,
Educating the community about medical genetics, and
Facilitating biomedical research.
Discussion, Cont.
Figure 1: Number of individuals with Mendelian or chromosomal
disorders
Retinitis pigmentosa 1
Distal 18q22q11.2 deletion syndrome
Sudden infant death with dysgenesis of the testes
Maple syrup urine disease
Hemophilia B
Crigler-Najjar syndrome
CHARGE syndrome
Byler disease
Troyer syndrome
Spondyloepiphyseal dysplasia
Nemaline myopathy
Mitochondrial disease
Ellis-Van Creveld syndrome
Meckel-Gruber syndrome
Zellweger syndrome
Spinal muscular atrophy I
Refsum disease
ITCH E3 ubiquitin ligase deficiency
Cystic fibrosis
Symptomatic epilepsy and skull dysplasia
GM3 synthase deficiency
Propionic acidemia
Methylmalonic acidemia
Duchenne muscular dystrophy
Charcot-Marie-Tooth disease
Severe combined immunodeficiency - RAG1
Severe combined immunodeficiency - ADA deficiency
Nonketotic hyperglycinemia
Dystonia 6
Phenylketonuria
Congenital adrenal hyperplasia
Cartilage-hair hypoplasia
Limb-girdle muscular dystrophy
1
11
11
2
11
2
2
3
3
2 1
2 1
3
Deceased
4
1
4
Living
5
3
2
1 2
5
1
5
2
4
7
4
3
5
2
9
8
3
9
3
7
6
12
2
22
27
11
18
9
46
0
10
20
30
40
50
60
Figure 2: Number of individuals with complex
disorders
Vein of Galen malformation 1
Methods
The CHC board of directors has determined that the initial strategy to overcome
healthcare disparities experienced by community members will be to offer the following
services:
Cost containment
& locally available
specialty care
Access to
prescription
medications
Community
genetics
education
Facilitation of
biomedical
research
• In-house
diagnostic and
biochemical
laboratory to
provide testing of
genetic disorders
• Bill negotiation
for community
members
receiving medical
bills from outside
medical providers
• Employment of
an ABMGcertified clinical
geneticist
• In-house Public
Health Service
pharmacy
• Pharmacist
tracking use and
interactions of
prescription
medications and
naturopathic
remedies
popular in the
community
• In-house
resource library
with paper and
online access to
education
materials
regarding
disease
inheritance and
pathophysiology
• Community
carrier testing
• Genetic
counseling
services
• Community
biorepository to:
o Assist in the
elucidation of
genetic causes,
contributors,
and modifiers of
medical
disorders
o Be overseen by
a scientific
board with Plain
community veto
capability
To aid in the implementation of these services, the CHC board of directors and
IHTC staff aimed to identify the greatest genetic disease-related burdens in the
community by conducting an initial community assessment to catalogue and determine
the prevalence of genetic disorders in the Indiana and neighboring Plain communities.
This initial assessment involved the collection of data through personal and informal
interviews with affected families and from reports in Amish periodicals, including The
Budget, Die Botschaft, The Diary, and Die Blatt.
Multiple sclerosis
Immune deficient
Holoprosencephaly
Dextrocardia with situs inversus
Cystic hygroma
Club foot
Legg-Calve-Perthes disease
Congenital heart defect
Cerebral palsy
Visual impairment
Spina bifida
Lissencephaly
Potter syndrome
Cardiomyopathy
Diabetes type 1
Figure 1. Number of individuals with
Mendelian or chromosomal
disorders. 353 individuals with
genetic disorders were identified
during the initial surveying of the
community. Of the 353 individuals
identified, 287 individuals were
reported to have Mendelian disorders
or chromosomal abnormalities. Most
commonly reported were limb girdle
muscular dystrophy, cartilage hair
hypoplasia, and congenital adrenal
hyperplasia. Due to the high rate of
early mortality, deceased individuals
were included in the results. Four
individuals whose vital status was
unknown are not shown in Figure 1.
These four individuals had cartilage
hair hypoplasia (n=1), ITCH E3
ubiquitin ligase deficiency (n=2),
and dystonia 6 (n=1).
1
Figure 3: Distribution of age at death
60
1
1
Number of Individuals
Visit us at:
www.indianachc.org
1
Evans ,
1
1
1
Deceased
Living
1
2
2
1 1
3
3
3
50
40
30
20
10
1
• In-house laboratory equipment will be critical to early diagnosis and clinical
management for many of these disorders. Not only would in-house testing lead to
better health outcomes, it would also allow the CHC to contain costs for uninsured
families. Strauss et al. have demonstrated how careful implementation of specialized
laboratory equipment and clinical services at the Clinic for Special Children have
provided better patient care and reduced the medical spending per person by 90% of
the U.S. average by decreasing turnaround time for tests results and preventing
neurologic damage, as well as dramatically reducing the number and duration of
hospitalizations per patient5.
Access to prescription medications
• The prevalence and range of rare genetic disorders (Fig. 1) reinforces the utility of an
in-house, public service pharmacy to contain costs, increase access to medications,
and to provide appropriate counseling and herbal medication reconciliation.
Community genetics education
• Specific resources describing the disorders identified in this and future surveys will be
prioritized for an in-house resource library.
• The Amish traditionally do not pursue formal education beyond the 8th grade,
increasing the likelihood of health illiteracy. Culturally appropriate education on the
etiology, presentation, and treatment of these disorders will lead to better health
outcomes for families. Community-wide education may increase the rate of diagnosis
for families with children with undiagnosed special needs by raising awareness of the
connection between genetics and special needs.
• The prevalence of autosomal recessive disorders (Fig. 1) in the community has created
a tremendous burden on the community. Community-wide carrier testing and education
will help families prepare for the birth of a child at risk for a specific genetic disorder
and insure prompt diagnosis and care for affected newborns.
Facilitation of biomedical research
• Results of research utilizing the CHC’s community-wide biorepository can be
translated quickly into clinical practice as appropriate for these disorders. Research
focused on elucidating the causes and modifying factors of complex disorders can also
be facilitated utilizing the biorepository.
6
0
10
5
0
0
22
5
10
15
20
25
30
Figure 2: Number of individuals with complex disorders.
Of the 353 individuals included in the initial assessment,
66 individuals were reported to have complex genetic
disorders. The most commonly reported complex
disorders included diabetes type 1 (n=27) and
cardiomyopathy (n=10).
5
10
15
20
25
30
Age at Death
35
40
45
50
Figure 3: Distribution of age at death. Thirty-three
percent (115/353) of individuals were deceased. Figure
3 shows the distribution of ages at death for 112
individuals. The ages at death were unknown for the
three individuals not shown in this figure.
55
Conclusions
The CHC will overcome the Plain population’s barriers to specialized healthcare
through the provision of local, affordable, and culturally-competent expert medical care
for individuals with genetic disorders. The CHC has and will continue to accomplish
these goals by engaging the community to oversee and plan access to needed specialized
healthcare services while making meaningful contributions to scientific communities.
References
Discussion
This initial assessment of genetic disorders in the Indiana and neighboring Plain communities confirms a
suspected high prevalence of genetic disorders. Disorders with the highest mortality included two forms of severe
combined immunodeficiency, cartilage hair hypoplasia, cardiomyopathy, limb girdle muscular dystrophy, and
nonketotic hyperglycinemia. Although the cause of death for these individuals has not yet been confirmed, it is
believed that most of the deaths were disease-related.
Results from this survey have informed the following overarching strategies for addressing healthcare
disparities:
Cost containment & locally-available specialty care
• The wide spectrum of disorders (Figs. 1 & 2) reported in the community and the high pediatric mortality rate (Fig.
3) reinforces the necessity for locally-available care for genetic disorders. Expertise in biochemical genetics would
be required of a CHC physician given the number of metabolic disorders (Fig. 1).
• A bill negotiator has been hired by the CHC to assist uninsured community members with negotiating reasonable
discounts on inpatient and outpatient medical bills.
1.Arcos-Burgos M, Muenke M. (2002) Genetics of population isolates. Clin Genet 61:233-247.
2.McKusick VA, Hostetler JA, Egeland JA. (1964) Genetic studies of the Amish: Background and
potentialities. Bull Johns Hopkins Hosp 115:203-222.
3.Weyer SM, Hustey VR, Rathbun L, Armstrong VL, Reed Anna S, Ronyak J, Savrin C. (2003) A
look into the Amish culture: What should we learn? J Transcult Nurs 14:139-145.
4.Brensinger JD, Laxova R. (1995) The Amish: Perceptions of genetic disorders and services. J
Genet Couns 4:27-47.
5.Strauss KA, Puffenberger EG, Morton DH. (In Press) One community’s effort to control genetic
disease. Am J Public Health.
Acknowledgements
We would like to thank Dr. D. Holmes Morton and staff at the Clinic for Special Children in
Pennsylvania and Dr. Heng Wang and staff at the DDC Clinic in Ohio. The physicians and staff at
these clinics have paved the way for a clinic like the CHC and have provided invaluable insight
regarding the planning of the CHC.
American College of Medical Genetics Annual Meeting  March 27 – 31, 2012  Charlotte, North Carolina, USA
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