Access to genetic testing for rare diseases: Existing gaps in public‐facing information

• Published date: 01 September 2021
• Author: Julie M. Robillard,Tanya L. Feng,Katarzyna Kabacińska
• Date: 01 September 2021
• DOI: http://doi.org/10.1002/wmh3.469

World Med. & Health Policy. 2021;13:518–525.518

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wileyonlinelibrary.com/journal/wmh3

Received: 4 June 2020

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Revised: 13 April 2021

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Accepted: 19 April 2021

DOI: 10.1002/wmh3.469

ORIGINAL ARTICLE

Access to genetic testing for rare diseases:

Existing gaps in public‐facing information

Julie M. Robillard

1,2

|Tanya L. Feng

1

|

Katarzyna Kabacińska

1

1

Department of Medicine, Division of

Neurology, University of British Columbia,

Vancouver, British Columbia, Canada

2

BC Children's and Women's Hospital,

Vancouver, British Columbia, Canada

Correspondence

Julie M. Robillard, Department of Medicine,

Division of Neurology, University of British

Columbia, B402 Shaughnessy, 4480 Oak St,

Vancouver, BC V6H 3N1, Canada.

Email: jrobilla@mail.ubc.ca

Funding information

Canadian Institutes of Health Research

Abstract

Genetic testing plays an increasingly important role in

the diagnosis and potential treatment of inherited and

rare conditions, such as aniridia—a disease that leads to

abnormal eye development, as well as in health re-

search on these conditions. As genetic testing is in-

creasingly sought for accurate and early diagnosis of

rare genetic disorders and in the context of direct‐to‐

consumer genomics, it is critical to examine the public‐

facing information about access to these services and

reimbursement policies. We conducted a targeted policy

and public‐facing resource search. Our analysis of re-

sources available for the patient community revealed

that there is very little practical guidance available about

access and reimbursement for genetic testing for rare

diseases. Greater clarity in public‐facing resources

about genetic testing would be beneficial to the patient

community as it would promote informed choices about

the procedure, mitigate potential harms associated with

lack of information and enable patient engagement in

their own health care.

KEYWORDS

aniridia, genetic testing, patient information,

Key points

•Genetic testing is crucial for diagnosis and treatment of

inherited and rare conditions.

•Information about access to genetic testing and

reimbursement for it is not easily available in public‐

facing resources.

This is an open access article under the terms of the Creative Commons Attribution‐NonCommercial‐NoDerivs License, which

permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no

modifications or adaptations are made.

© 2021 The Authors. World Medical & Health Policy published by Wiley Periodicals LLC on behalf of Policy Studies Organization.