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Physician knowledge and confidence regarding newborn screening for spinal muscular atrophy

Betts, Stephanie (2020) Physician knowledge and confidence regarding newborn screening for spinal muscular atrophy. Master's Thesis, University of Pittsburgh. (Unpublished)

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Spinal muscular atrophy (SMA) is an autosomal recessive condition resulting in progressive muscle weakness and atrophy. Newborn screening is a public health program which screens infants for treatable genetic conditions with the goal of implementing early intervention. SMA was added to Pennsylvania newborn screening in March of 2019 following the development of treatment. Several studies have revealed that primary care physicians (PCPs) have limited knowledge and confidence regarding newborn screening despite their important role in the process. The purpose of this study was to assess Pennsylvania PCPs’ knowledge regarding SMA newborn screening and their confidence in caring for these patients. A survey was distributed to PCPs in Pennsylvania inquiring about their experience, knowledge, level of comfort, and desire for more information regarding SMA newborn screening. The survey was faxed and emailed to PCPs included on the Pennsylvania Department of Health’s list of those who have the potential to receive a newborn screening result for follow-up. The survey was also emailed to PCPs belonging to the Pediatric PittNet research network. Of the 26 respondents, 18 (69.2%) reported having been involved in the care of a patient with SMA. Ten participants (45.5%) indicated they had received formal education related to SMA. PCP knowledge and level of comfort regarding SMA newborn screening was low. Knowledge of basic concepts was higher than knowledge of complex information regarding treatment and follow-up. Physician confidence was particularly low for disclosing positive newborn screening results, discussing SMA with families, and ordering diagnostic testing. Both knowledge and comfort were higher in participants who reported having experience with patients with SMA, but this difference was more modest for comfort than for knowledge. Most respondents (91.3%) indicated they would find it beneficial to receive additional information regarding SMA. The results of the study demonstrate that PCPs lack knowledge and confidence regarding caring for patients with SMA. They desire and could benefit from additional training. Better equipping our workforce to provide follow-up care for patients with SMA identified on newborn screening will ensure rapid referral to appropriate specialists. This will benefit both individual families and the field of public health.


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Item Type: University of Pittsburgh ETD
Status: Unpublished
CreatorsEmailPitt UsernameORCID
Betts, Stephaniesjb148@pitt.edusjb148
ETD Committee:
TitleMemberEmail AddressPitt UsernameORCID
Committee ChairSteele,
Committee MemberAbdel-Hamid, HodaHoda.Abdel-Hamid@chp.eduhza1
Committee MemberBear, Toddtobst2@pitt.edutobst2
Committee MemberDurst, Andreaadurst@pitt.eduadurst
Date: 30 July 2020
Date Type: Publication
Defense Date: 8 June 2020
Approval Date: 30 July 2020
Submission Date: 17 June 2020
Access Restriction: 2 year -- Restrict access to University of Pittsburgh for a period of 2 years.
Number of Pages: 146
Institution: University of Pittsburgh
Schools and Programs: School of Public Health > Genetic Counseling
School of Public Health > Public Health Genetics
Degree: MS - Master of Science
Thesis Type: Master's Thesis
Refereed: Yes
Uncontrolled Keywords: spinal muscular atrophy, SMA, newborn screening, genetics, physician education
Date Deposited: 31 Jul 2020 02:08
Last Modified: 01 Jul 2022 05:16


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