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Improving Access To Newborn Screening and
Genetic Services in Wisconsin Plain Communities
Presenter: Anne Bradford Harris, PhD, MPH, RD
Collaborators: Shelby Sieren, MS, CGC, Meghan Grow, MS, CGC,
Christine Seroogy, MD, Gretchen Spicer, Midwife
“Plain” = Amish, Mennonite and other
conservative Christian sects
• Most Amish descend from about 200
18th century immigrants
• Higher prevalence of certain genetic
disorders
• “Special Children”
• Cultural Barriers to Health Care
The Plain population is the fastest
growing minority in Wisconsin
~20,000 individuals
48 settlements
24 counties
127 church districts
~ 880 births/year
High rate of out-of-hospital
deliveries
Young Center for Anabaptist and Pietist Studies. (2012) Elizabethtown College. "Amish Population by State (2012)."
Accessed at: http://www2.etown.edu/amishstudies/Population_by_State_2012.asp
Rohan, A., Seay J., and Katcher, M. (2013) Estimating and Understanding the
Characteristics of Amish Births. Poster Presentation,Wisconsin Department of Health Services, Maternal & Child Health
Section Meeting.
Map Source: Jessica Gartner, compiled from Elizabethtown College
Young Center for Anabaptist and Pietist Studies, Amish America, the
Mennonite Encyclopedia, and experts within WI DHS DPH
Newborn Screening
• Identifies congenital diseases in infants within 48
hours after birth that can be treated to prevent
severe disabilities or death
3 Parts:
• Blood
• Hearing
• Heart
Wilson, J.M.G., & Jungner, G. (1968). Principles and Practice of Screening for Disease Geneva: World Health Organization. Accessed at:
http://apps.who.int/iris/bitstream/10665/37650/1/WHO_PHP_34.pdf
Newborn Screening amongst Amish and
Mennonite Families
• Low rates of newborn screening
• Estimated up to 50% of infants do not
receive newborn screening
• Approximately 200 annual births
delivered by Amish birth attendants,
non-licensed midwives or family
members not trained in newborn
screening
• Many of the serious genetic
disorders found in the Plain
population are part of newborn
screening
A. Rohan and G. Spicer, Department of Health Services, personal communication 2015
Gartner, J. (2013). Plainclothes Communities and Newborn Screening in Wisconsin. Master of Public Health Capstone paper, University of Wisconsin at Madison School and
Medicine and Public Health, Madison, WI.
Methods
LEND Genetic Counseling Students –
Graduate Research
Shelby Sieren (Dr. Christine Seroogy, advisor) – Attitudes and
Practices regarding Newborn Screening
(funding from Wisconsin “Amish Project”)
Meghan Grow (Dr. Anne Harris, advisor) – Identifying Genetic
Conditions
(funding from Genetic Alliance Impact Award to the Genetics
Systems Integration Hub)
• Between August 2014 and February 2015, 1,239 surveys were
delivered to families, 315 surveys were received and analyzed, for a
total response rate of 25.4%.
• Survey respondents included Amish and Mennonite families from 38
communities and 14 counties in Wisconsin.
• Data were stored in a REDCap online database and analyzed by a
statistician with software available through the UW Institute for
Clinical and Translational Research.
Proportion of survey responses
from each grant project
Demographics of the survey respondents
Total Households
Amish
Mennonite
Married
Have children
315
269 (85.7%)
44 (14.0%)
309 (99.4%)
297 (94.3%)
Average number of children
per household
6.8 (±3.9)
Average household size
6.6 (±3.2)
Total children
2,010
Identification and Analysis of
Genetic Conditions in the Plain
Communities of Wisconsin
Primary aim: Identify what genetic conditions exist within the Amish and
Old Order Mennonite families in Wisconsin.
Secondary aims: Expand our understanding of the genetic conditions and
undiagnosed/unmet medical needs that exist in the Wisconsin Plain
communities to aid in the establishment of an outreach clinic in La Farge
designed to provide specialized, affordable health care to these
populations.
Improve education and outreach regarding the identified genetic
conditions to the Plain communities of Wisconsin
Suspected or Documented Genetic
Conditions in Wisconsin Plain Communities
• 3-b-OH-steroid dehydrogenase
deficiency
• Aldosterone deficiency
• Amish albinism
• Cartilage-hair hypoplasia
• Fragile X syndrome
• Galactosemia
• Glutaric aciduria, type 1
• Hemophilia B - Factor IX deficiency
• Hirschsprung disease
• Infantile lethal cardiomyopathy
• Lethal neonatal rigidity and
multifocal epilepsy
• Long QT syndrome
• Nemaline rod myopathy (chicken
breast disease)
• Phenylketonuria
• Primary ciliary dyskinesia
• Propionic acidemia
• Rett syndrome
• Severe combined immune
deficiency
• Symptomatic epilepsy and skull
dysplasia
• Troyer syndrome
• Von Willebrand disease
• Yoder dystonia
*Gathered from documented cases through Wisconsin Newborn Screening Program and from health care providers in Wisconsin
Genetic Conditions Identified
by survey respondents
More than 1 person:
• Hemophilia B
• Troyer Syndrome
• Amish Albinism
• MSUD
• Pearson Syndrome
• Hirschsprung
• Congenital Nephrotic Syndrome
• Glycogen Storage Disease VI
• Down Syndrome
• Propionic Acidemia
• Retinitis Pigmentosa
One person: Fragile X syndrome,
PKU, RAG1-SCID, Von Willebrand,
Yoder Dystonia, Becker Muscular
Dystrophy, Galactosemia, G.M.
Synthase Deficiency, Hypertrophic
Cardiomyopathy
Of the households with a family member reported to have a
genetic condition, how many reported having received
education and/or resources about the condition? (n=37)
30
25
20
15
10
5
0
Received educataion about the course of the
condtion
Received education about how the condition can be
inherited
Yes
No
Received resources or sources of support
Genetic conditions for which individuals reported being
carriers and percent of those being a carrier (n=24)
Genetic Condition
Frequency
Percent (n=24)
Maple Syrup Urine Disease
7
29.2
Hemophilia B
4
16.7
Hemophilia
2
8.3
Propionic Acidemia
2
8.3
1 each
4.2 each
Congenital Nephrotic Syndrome, Fragile X syndrome,
Fraser syndrome, G.M. 3 Synthase Deficiency, GSD VI,
Phenylketonuria, RAG1-SCID, SMA Type 1, Troyer
syndrome
Medical Needs Identified
by survey respondents
Unmet Medical Needs
• Problems with Teeth and Gums
• Heart defect
• Anemia/paleness
• Consistent cough for more than 3
weeks per year
• Consistent chest pain for more than 3
weeks per year
• Excessive bleeding
• Jaundice (yellow skin)
• Wheezing
Other Special Needs
• Tiredness/fatigue (lasting more than 3
weeks per year)
• Joint pain more than 3 weeks per year
• Frequent infections
• Failure to gain weight
• Muscle Weakness
• Nutritional or feeding problems
Hearing/Speech and Language (n=177)
• Hearing loss and deafness (13)
• Speech problems (12)
• Language delay (5)
Pregnancy Losses
• One hundred sixty households responded when asked about
a history of miscarriages, and 29.4% reported a history of
three or more miscarriages
• When asked if they had ever had any stillborn children, two
hundred seventy-one households responded, and 7.4%
households reported a history of one or more stillbirths.
Conclusions
• 11.7% of households report having a member of their household
diagnosed by a doctor with a genetic/inherited/metabolic disorder,
representing a total of 62 individuals.
• Of these households, most reported having received education about
the course of the condition and how it is inherited, in addition to
having received resources or sources of support to help their family
cope with the condition.
• A large proportion of the study population reported undiagnosed
conditions and/or unmet medical needs
• Almost 30% of our survey population reported a history of three or
more miscarriages
Newborn screening amongst Amish
and Mennonite Families in Wisconsin
A sense of the knowledge, views, rate and barriers
• Primary aim: gain a sense of the rate of
newborn screening in Plain
communities
• Secondary aims: improve our
understanding of the knowledge,
attitudes, views and perceptions of
newborn screening, along with
perceived access and barriers to
obtaining screening
Newborn Screening Practices
Newborn Screening Practices
If you had a newborn baby, how likely would
you be to have newborn screening?
60
Percent (%)
50
40
30
20
10
0
Very Likely
Likely
Somewhat
Likely
Unlikely
Unsure
Decline to
answer
N=284 (31 missing data points). Very Likely (150, 52.8%), Likely (49, 17.3%), Somewhat
Likely (20, 7.0%), Unlikely (40, 14.1%), Unsure (24, 8.5%), Decline to answer (1, 0.4%)
Knowledge of Newborn Screening
How much do you know about newborn
screening?
60
Percent (%)
50
40
30
20
10
0
A lot
Some
A little
Nothing
Never heard of
it
N=296 (19 missing data points). A lot (22, 7.4%), Some (148, 50%), A little (109, 36.8%),
Nothing (15, 5.1%), Never heard of it (2, 0.7%)
Knowledge of Newborn Screening
How did you learn about newborn screening?
70
60
Percent (%)
50
40
30
20
10
0
From a
midwife
From a
brochure
From a
family
member
From a
Other source Never heard
community
of it
meeting
N=286 (29 missing data points). From a midwife (190, 66.4%), From a brochure (42, 14.7%),
From a family member (64, 22.4%), From a community meeting (41, 14.3%), Other source
(46, 16.1%), Never heard of it (3, 1.0%)
Views of Newborn Screening
40
How important do you feel the newborn
screening is in preventing disability or death for
your family?
35
Percent (%)
30
25
20
15
10
5
0
Very
Important
Important
Somewhat
Important
Not
Important
Unsure
Never heard
of it
N=283 (32 missing data points). Very Important (78, 27.6%), Important (101, 35.7%), Somewhat
Important (47, 16.6%), Not Important (15, 5.3%), Unsure (41, 14.5%), Never heard of it (1, 0.4%)
Views of Newborn Screening
How is newborn screening viewed in your
community?
45
40
Percent (%)
35
30
25
20
15
10
5
0
It is
Many
Few families
It is
encouraged families do it
do it
discouraged
Unsure
Decline to
answer
N=282 (33 missing data points). It is encouraged (107, 37.9%), Many families do it (113, 40.1%), Few
families do it (30, 10.6%), It is discouraged (2, 0.7%), Unsure (78, 27.7%), Decline to answer (3, 1.1%)
Access to Newborn Screening
I have access to newborn screening.
60
Percent (%)
50
40
30
20
10
0
Strongly
Agree
Agree
Undecided
Disagree
Strongly
Disagree
Decline to
answer
N=251 (64 missing data points). Strongly Agree (75, 29.9%), Agree (129, 51.4%), Undecided
(37, 14.7%), Disagree (2, 0.8%), Strongly Disagree (1, 0.4%), Decline to answer (7, 2.8%)
Barriers to Newborn Screening
Reasons for not having newborn screening
35
30
Percent (%)
25
20
15
10
5
0
Did not know Newborn
screening
about
newborn
was not
screening
offered
Newborn
screening
was
discouraged
Do not
believe in
newborn
screening
Newborn
screening
was too
expensive
Travel was
too difficult
Concerns
Concerns
about
about followfamily's up testing or
privacy
care
Other
Conclusions
• Overall rate of newborn screening amongst surveyed Plain
households = 73.4%
• 26.6% of families with children never received newborn screening
• Most Plain families have knowledge, favorable views of, and access to
newborn screening
• Low rate of newborn screening likely secondary to a perception that
newborn screening is not important and uncertainty about its role in
preventing disability or death
Implications for Services
• Age differences suggest improvement in awareness,
acceptance and access to newborn screening over time
• Majority of families felt they could have had newborn
screening if they would have known about it or if it had been
offered to them
• Need for continual focused education highlighting the
importance of newborn screening
• Misperceptions and other concerns still exist
• Significant differences between Amish and Mennonite
families
Acknowledgements
This project was funded by Wisconsin Partnership Program
Opportunity Grant and the Clinical
and Translational Science Award
(CTSA) program, through the NIH
National Center for Advancing
Translational Sciences (NCATS),
grant UL1TR000427,
and the Genetics System
Integration Hub of Wisconsin,
funded by the state Title V Children
and Youth with Special Care Needs
program and a Genetics Alliance
Impact Award
Thanks go to
• Plain community advisory board
• Matt Goodsmith
• Cherie Schommer
• Tracy Henning
• Mary Lindstrom and Qianqian Zhao
• Amish and Mennonite community
members that distributed the survey,
especially Ada Borntreger, Ervin
Bontrager and Raymond Fox
• The many Amish and Mennonite
families that completed the Wisconsin
Plain Community Survey