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Assessment of online educational resources regarding mitochondrial disease genetics

Blankenship, Sara (2017) Assessment of online educational resources regarding mitochondrial disease genetics. Master's Thesis, University of Pittsburgh. (Unpublished)

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Abstract

The internet has become the primary resource for the public to access information about rare diseases. Patients and families have acknowledged the need for readable and up-to-date resources. Mitochondrial diseases are a group of rare disorders that illustrate the need for improved patient educational material (PEM). This diverse group of conditions is characterized by a high degree of genetic and clinical heterogeneity. Genetics of mitochondrial disease are complex resulting from pathogenic variants within nuclear DNA or mitochondrial DNA. Next Generation Sequencing (NGS) tests are becoming the standard genetic testing platform for cases of suspected mitochondrial disease given its high diagnostic yield. NGS tests are complex, yielding ambiguous results (VUS) and incidental findings. Educational resources are therefore essential.
Online PEMs regarding mitochondrial disease genetics were analyzed for readability. A survey was developed to assess patient/caregiver use, perception of material readability, and views on topics for inclusion on PEMs for genetic testing. The survey was distributed through the Mitochondrial Disease Community Registry (MDCR), a health information registry comprised of individuals affected with mitochondrial disease and caregivers sponsored by the United Mitochondrial Disease Foundation (UMDF).
A total 60 participants completed the survey. In general, online PEMs were written above a 6th-8th grade reading level. Flesch-Kincaid Readability Grade-level scores ranged from 7.6-15.9. The internet was the most frequently utilized resource (84%, n=48). Participants relied on combinations of resources with 77% (n=44), reporting use of 2 or more resources including the internet, physicians, genetic counselors, and written material. Participants perceived a difference in knowledge about mitochondrial disease genetics, inheritance, and recurrence risk. Suggested topics for online genetic testing resources ranged from recommended tests, risks/benefits, VUS results, and insurance coverage.
Improving the readability of online PEMs is matter of public health significance given that members of the rare disease community rely on the internet for information. This study concludes that it is imperative for online PEMs to be up-to-date and written at a 6th-8th grade-level. Accessing multiple modalities of resources reflects a strong desire for information. This may be due to the perceived lack of resources and provider knowledge. Investigators recommend increasing provider education and awareness.


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Details

Item Type: University of Pittsburgh ETD
Status: Unpublished
Creators/Authors:
CreatorsEmailPitt UsernameORCID
Blankenship, Saraslb147@pitt.eduslb147
ETD Committee:
TitleMemberEmail AddressPitt UsernameORCID
Thesis AdvisorVento, JodieJodie.Vento@chp.edu
Committee MemberDurst, Andreaadurst@pitt.edu
Committee MemberGoldstein, AmyAmy.Goldstein@chp.edu
Committee MemberFelter, Elizabethemfelter@pitt.edu
Date: 29 June 2017
Date Type: Publication
Defense Date: 18 April 2017
Approval Date: 29 June 2017
Submission Date: 28 April 2017
Access Restriction: No restriction; Release the ETD for access worldwide immediately.
Number of Pages: 104
Institution: University of Pittsburgh
Schools and Programs: Graduate School of Public Health > Human Genetics
Degree: MS - Master of Science
Thesis Type: Master's Thesis
Refereed: Yes
Uncontrolled Keywords: Mitochondrial Disease, Online Resources, Patient Educational Material, Health Literacy
Date Deposited: 29 Jun 2017 23:09
Last Modified: 29 Jun 2017 23:09
URI: http://d-scholarship.pitt.edu/id/eprint/31630

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