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Genetic Literacy and the Acquisition of Clinical Genetics Knowledge in Medical Students

Raker, Ravella (2021) Genetic Literacy and the Acquisition of Clinical Genetics Knowledge in Medical Students. Master's Thesis, University of Pittsburgh. (Unpublished)

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Many physicians report minimal clinical genetics education and feel ill-prepared to discuss
genetic information with their patients.1,2 This study assessed the clinical genetics knowledge of
University of Pittsburgh medical students through an online survey. The students were asked to
rate their confidence in their knowledge of clinical genetics concepts and then answer multiple�choice questions that elicited knowledge concerning inheritance, clinical scenarios, and genetic
test selection. The survey was distributed three months after the students took a 21-day Human
Genetics course, required for all first year medical students at the University of Pittsburgh.
Out of 147 medical students, 10 completed the survey (a response rate of 6.8%). Medical
students’ responses suggested they are confident in their understanding of foundational genetic
concepts such as the central dogma and inheritance but are less confident in collecting family
histories and identifying indications for genetics referral. Contrary to the respondents’ confidence
levels, the knowledge assessment revealed that students often incorrectly answered knowledge
questions pertaining to inheritance and appropriate test selection. Students had lower confidence
scores and lower knowledge scores for clinical genetics resources, testing strategy, and test
interpretation. Most students reported experience with molecular genetics through undergraduate
coursework; a minority reported genetics-related clinical or research experience. There was no
significant difference between respondents who reported prior genetics clinical or research v
experience and those who did not, suggesting that all medical students would benefit from learning
the breadth of both molecular and clinical genetics in medical school curriculum.
These results signify a need for genetics education that is pertinent to advancements in
clinical genetics. This study is significant to public health because physicians with limited
formal genetics education are at increased risk of accidentally ordering the wrong genetic test,
failing to refer a patient in need of genetic services, or unintentionally providing misinformation
during results disclosure, which can jeopardize the quality of care for patients and limit equitable
access to healthcare.3-6 To build a skilled public health workforce, medical students must possess
basic knowledge of clinical genetics concepts and resources to make appropriate decisions
regarding genetic information in the clinical setting as future physicians.


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Item Type: University of Pittsburgh ETD
Status: Unpublished
CreatorsEmailPitt UsernameORCID
Raker, RavellaRAR175@pitt.eduRAR175
ETD Committee:
TitleMemberEmail AddressPitt UsernameORCID
Committee ChairGrubs, Robinrgrubs@pitt.edurgrubs
Committee MemberMassart,
Committee MemberMunro,
Committee MemberShaffer, Johnjohn.r.shaffer@pitt.edujohn.r.shaffer
Date: 14 May 2021
Date Type: Publication
Defense Date: 9 April 2021
Approval Date: 14 May 2021
Submission Date: 8 May 2021
Access Restriction: No restriction; Release the ETD for access worldwide immediately.
Number of Pages: 105
Institution: University of Pittsburgh
Schools and Programs: School of Public Health > Human Genetics
Degree: MS - Master of Science
Thesis Type: Master's Thesis
Refereed: Yes
Uncontrolled Keywords: genetic literacy medical students physicians curriculum medical school
Date Deposited: 14 May 2021 17:53
Last Modified: 14 May 2021 17:53


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