Genetic Counseling Research Study

You are invited to participate in a research project focused on better understanding the practices and attitudes of neurologists who are ordering neuromuscular genetic testing within clinical settings. Your participation is voluntary. Participation includes a single online survey and the option to participate in a single follow-up interview to elaborate on the themes addressed in the survey.

This project is approved by Virginia Commonwealth University's Institutional Review Board. If you have any questions or concerns about your participation in this research, please reach out to the lead student investigator Ashley Smith at smithan13@vcu.edu.

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ABOUT THIS CONSENT FORM
You are being invited to participate in a research study. It is important that you carefully think about whether being in this study is right for you and your situation.

This consent form is meant to assist you in thinking about whether or not you want to be in this study. Please contact the investigator or the study staff to explain any information in this consent document that is not clear to you.

Your participation is voluntary. You may decide not to participate in this study. If you do participate, you may withdraw from the study at any time. Your decision not to take part or to withdraw will involve no penalty or loss of benefits to which you are otherwise entitled.

WHY IS THIS STUDY BEING DONE?
You are invited to participate in a research project focused on better understanding the practices and attitudes of neurologists who are ordering neuromuscular genetic testing within clinical settings. Your participation is voluntary. Participation includes a single online survey and the option to participate in a single follow-up interview to elaborate on the themes addressed in the survey.

Clinical genetic testing is becoming increasingly more common as a routine part of neurological care to better diagnose, treat, and prevent disease in affected individuals and family members. With increased accessibility and usage of neuro-specific genetic testing in patient care, more neurologists are faced with incorporating genetics into their practice as the demand is greater than genetic counselors are able to meet. To our knowledge, no studies have looked at the current genetic testing practices and experiences of neurologists ordering neuromuscular genetic testing within the United States, including interpretation of variants of uncertain significance (VUSs). Many questions remain unanswered, including what circumstances neurologists order neuromuscular genetic tests, how the subsequent results are interpreted, and how they are communicated to patients.

This study can possibly paint a better picture of the current landscape of genetic testing for neuromuscular disease and allow for a deeper understanding of the underlying motivations behind neuromuscular genetic testing in neurological patient care from a provider perspective.

WHAT WILL HAPPEN IF I PARTICIPATE IN THE STUDY?
As a practicing neurologist, you are invited to take part in a research survey that asks about how you order neuromuscular genetic testing, which genetic tests you order, how you handle results (including inconclusive results), how you disclose results to patients, and your overall attitudes toward genetic counselor involvement in neuromuscular clinics. This survey is online and should take approximately 10-15 minutes to complete.

The survey will include an option for noting your interest in participating in a follow-up interview over Zoom and a preferred method of contact for scheduling such an interview (email/phone). The interview will be scheduled to take approximately 30 minutes. This Zoom interview will be recorded for the purpose of ensuring accurate data collection/analysis when coding interview transcripts for common themes. Recorded interviews will be securely stored for only the necessary duration of the research project, will not be viewed by other non-research study personnel, will not be shared outside the research study personnel, and promptly destroyed upon completion of the project.

This optional interview will further expand on topics discussed in the research survey including your thoughts on the clinical utility of genetic testing, how you choose which lab to order neuromuscular genetic testing from, how you determine which genetic test is the right test to order for your patients, your thoughts about genetic counselors as part of a clinical neurology team, and how well-equipped/prepared you feel to order, interpret, and explain neuromuscular genetic testing results to your patients. You will also be asked to provide your interpretation of a mock genetic test report that contains a variant of uncertain significance in the DYSF gene for a hypothetical patient that has a history of lower extremity weakness, toe-walking, progressive muscle weakness in proximal upper extremities, mild facial weakness, and family history of lower extremity weakness and abnormal posture which will be given prior to the interview for your review.

Due to the voluntary nature of participation in this study, you reserve the right to discontinue participation at any time without penalty. You may log out of the survey should you wish to not proceed or decline to participate in the follow-up interview.

WHAT ARE THE BENEFITS OF BEING IN THE STUDY?
There is no guarantee that you will receive any benefits from being in this study. However possible benefits include winning a $25 Amazon/Visa gift card. If you provide an email address upon completion of the survey, you will be notified by email if you were selected in the drawing for six $25 Amazon/Visa gift cards and the gift card will be emailed to you. If you complete the optional interview, you will be notified by email if you were selected in the second drawing for six $25 Visa/Amazon gift cards and the gift card will be emailed to you.

We hope the information learned from this project will enhance our understanding of neuromuscular genetic testing practices and attitudes in current neurologic care.

WHAT RISKS AND DISCOMFORTS COULD I EXPERIENCE FROM BEING IN THE STUDY?
We do not anticipate any physical, social, legal, or economic risks. Participation in research might involve some loss of privacy. There is a small risk that someone outside the research study could see and misuse information about you.

The survey questions and interview questionnaire ask about your experience with neuromuscular genetic testing in clinical practice so there is a theoretical risk of psychological harm should it cause you to reflect on negative experiences. You may refuse to answer any question that makes you feel uncomfortable.

HOW WILL INFORMATION ABOUT ME BE PROTECTED?
VCU and the VCU Health System have established secure research databases and computer systems to store information and to help with monitoring and oversight of research. Your information will be kept in these databases but are only accessible to individuals working on this study or authorized individuals who have access for specific research related tasks.

Identifiable information in these databases are not released outside VCU unless stated in this consent or required by law. Although results of this research may be presented at meetings or in publications, identifiable personal information about participants will not be disclosed.

In general, we will not give you any individual results from the study. The information collected as part of this study will not be used or distributed for future research studies, even if identifiers are removed.

WHOM SHOULD I CONTACT IF I HAVE QUESTIONS ABOUT THE STUDY?
The lead student investigator, Ashley Smith, is the best person to contact if you have any questions, complaints, or concerns about your participation in this research. The best method of contact is email: smithan13@vcu.edu

If you have general questions about your rights as a participant in this or any other research, or if you wish to discuss problems, concerns or questions, to obtain information, or to offer input about research, you may contact:
Virginia Commonwealth University Office of Research
800 East Leigh Street, Suite 3000, Box 980568, Richmond, VA 23298
(804) 827-2157; https://research.vcu.edu/human_research/volunteers.htm

If you have any questions, please contact the study team before taking the survey.

STATEMENT OF CONSENT (Pre-Survey)
I have been provided with an opportunity to read this consent form carefully. All of the questions that I wish to raise concerning this study have been answered. By electronically selecting yes, I attest that I freely consent to participate in this research study.

* must provide value

Yes

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By electronically selecting yes, I attest that I am a practicing neurologist/neuromuscular physician within the United States.

* must provide value

Yes

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By electronically selecting yes, I attest that I am over the age of 18 years old.

* must provide value

Yes

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By electronically selecting yes, you agree that you consent to the study and will continue to the survey questions.

* must provide value

Yes

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You have selected an option that triggers this survey to end right now.

To save your responses and end the survey, click the 'End Survey' button below. If you have selected the wrong option by accident and/or wish to return to the survey, click the 'Return and Edit Response' button.