Questions to Ask Your Genetic Counselor for Rare Disease

A Guide to Working With Your Genetic Counselor

Since most rare diseases are caused by changes in your genes, genetic testing is often part of the journey. Understanding your options may be challenging, so partnering with a genetic counselor can help you make the best choice for you and your family. A genetic counselor is a healthcare professional with special training in counseling and medical genetics. They can help you understand the diagnostic process and can advocate for you to obtain emotional and financial support to get the best possible care.

Genetic counseling is based on shared decision making –  a model of patient-centered care that enables and encourages people to play an active role in the medical decisions that affect their health. Your genetic counselor will listen to your thoughts and feelings, help you think through your values, answer questions you have, and arm you with information and support to make the best choices for you, your child, or your family. 

To get the most out of your time with a genetic counselor, it’s important to come prepared! Use this checklist of questions to ask your genetic counselor to help guide your conversations and decisions – before you make an appointment, at your first session, and after testing. Anything that you can gather and send to your genetic counselor ahead of time will make your session more valuable and efficient

Before you make an appointment, ask:

• Who provides the care here?
• Do you have geneticists?
• Do you have genetic counselors?
• Do you have advanced practice providers?
• What should I expect when I meet with the genetic counselor?
• How many appointments will I need?
• What should I send over before the appointment, or bring with me?
• Will my insurance pay for the counseling? Are there assistance programs?
• Is genetic testing part of the first session? If so, what will you sample?
• How will my privacy and the privacy of my family members be protected?

At your first session, make sure you cover:

• What type of genetic counseling is available?
• What is involved in the process?
• How will I know if I need to have genetic testing done?
• What are the benefits and limitations of these tests?
• What information will the tests provide and how will I receive the results?
• How will this information help us?
• We have had genetic tests in the past that didn’t provide answers. What will be different now?
• What is the chance that testing will provide a diagnosis?
• Could I be exposing myself or my family to discrimiation based on genetic information?
• How will I pay for testing?

After testing, discuss:

• What does this result mean for my family?
• Does this result mean I’m definitely going to get sick?
• Is there a treatment for this?
• You found this genetic change. Is there a way to correct it?
• Could I pass this on?
• What are the chances that my children, my siblings, my parents are affected by this?
• What is happening in the world of clinical trials around this?
  Do you know of other families or organizations you could connect me with?
• Who should I share my results with?
• I didn’t receive a diagnosis. What’s next?

Other resources:

• Types of Genetic Tests – review the chart outlining various types of genetic testing options, including recommended uses, limitations, timing, and cost 
• What’s next after genetic testing – download the toolkit to help you determine what’s next after genetic testing, whether you receive a diagnosis or not
• Cell and Gene Therapy for rare disease clinical trials – consult the FAQ to help you make decisions about whether a clinical trial is the right choice for your family

Want more information? Check out these additional resources to help prepare your family to navigate the gene-based diagnostic journey. Global Genes has created a series of toolkits, videos, and checklists to share insights from rare advocates and experts who have personal experience – professional and personal. This information was taken from our genetic testing toolkit, How a Genetic Counselor Can Help You. Find more information and download all four free Genetic-Based Diagnosis toolkits which also include Genetic Testing: Getting to a Diagnosis, Diagnosis or No Diagnosis – What To Do Next?, and Making Informed and Shared Decisions About Genetic Testing & Clinical Trials.