Genetic counseling plays a vital role in the rare disease community and is making its way to all corners of medicine. Genetic counseling is a growing field that is not well recognized across all medical specialties. It is vital to report where the gap in knowledge of genetic counseling is coming from – the lack of resources or the lack of knowledge, and how this gap affects family planning of patients with a Charcot Marie Tooth disease (CMT) diagnosis.
Research studies looking at patient exposure to genetic counseling allow for the assessment of where the gap is originating, allowing for new research to propose ways of closing this gap of knowledge or resources.

The knowledge of genetic counseling in the CMT population varies greatly, mainly based on family history of disease. This lack of knowledge sometimes stems from providers not recognizing the field, while the lack of genetic counselors across specialties can limit patient knowledge as well. This lack of knowledge may play a role in the reproductive decisions that patients diagnosed with CMT make regarding their future child(ren). We hope to learn how this gap affects the attitudes of patients diagnosed with CMT and how it affects their reproductive future (in terms of family planning). If you are interested in participating, please take a few minutes to answer the questions at the link below. We do not wish to know who you are; you will remain anonymous unless you agree to a post-survey interview.

To access the survey, please follow this link: https://redcap.link/rcmzfptk

About the Study

This study aims to explore the gap between the genetic counseling field and patient population; is it a lack of resources or a lack of knowledge? Genetic counseling plays a vital role in the diagnosis of CMT and other rare diseases. If a patient does not have access to or knows little about genetic counseling, how does that affect the patient in the long run? This study aims to examine this gap and how it affects patients with CMT.

Who Can Participate?

Individuals with any diagnosed CMT type that falls between the ages of 18 to 45 years. All individuals with CMT and in this age range are encouraged to take the survey.

As a participant in this study, you would be asked to complete a one-time, anonymous survey online. If interested, there are voluntary face-to-face interviews available for participants who are interested in sharing more about their diagnostic journey. Interviews will take place over Zoom and are completely voluntary.

How to Get Involved

If you are interested in taking part in this study, please follow the survey link below and complete the survey. Feel free to share this survey with family or friends with a CMT diagnosis!

Survey link: https://redcap.link/rcmzfptk