Genetic testing for Huntington’s disease (HD) first became available in 1993. The test can be used to confirm a diagnosis of HD in a person who is already showing symptoms (confirmatory testing). Some individuals prefer to be tested before they have symptoms (predictive testing) to predict if they will develop HD in the future.
Predictive testing can only tell you if you have the expanded gene that causes HD to develop. It cannot tell you what symptoms you will have or at what age you may start to show symptoms.
Genetic testing can also be used for prenatal testing. If you are interested in prenatal testing, we can help you with resources available through our OB-GYN department. It is possible to test an unborn fetus of a current pregnancy and also test embryos harvested through in-vitro fertilization prior to implantation.
Rush University Medical Center is a Huntington’s disease Society of America (HDSA) Center of Excellence. Therefore, we follow the guidelines recommended by the HDSA for genetic testing.
The genetic testing process is not as simple as having your blood drawn and then receiving your results. There are many other factors to consider including the following:
- Emotional state
- Financial constraints
- Insurance concerns
- Future planning
- Social issues involving other at-risk or diagnosed family members
We believe the HDSA process is the best way to go through the genetic testing process. This process allows you to gather all relevant information, learning about HD from experts in the field and reflect on any emotional or social concerns you may not have thought through yet.
The Genetic Testing Process
If you are currently experiencing symptoms of HD, then we will schedule you for an initial evaluation in our HD Clinic. During that visit you will have a neurological examination, and may meet with a genetic counselor or our neuropsychologist depending on your concerns.
We also have a nurse and social worker who are frequently involved in these visits. After your comprehensive evaluation, our team will discuss the diagnosis with you and will help to develop a plan of care for you moving forward. Although a blood test is not necessary to diagnose HD, sometimes it is still drawn to confirm the diagnosis.
Results would be shared with you in-person at your next follow-up appointment in one month. We never disclose results over the phone or mail/fax results until we have spoken to you directly in-person.
Although we do not perform prenatal testing directly in our HD clinic, we can connect you to the appropriate resources if you are already pregnant. Our genetic counselor can help you understand the different testing options and refer you to an OB-GYN at Rush with experience in prenatal testing.
Predictive “pre-symptomatic” testing
If you are not experiencing any symptoms of HD but are at-risk for the disease, we can schedule you for our genetic testing process within our HD Clinic. Note: Predictive testing always requires an initial telephone consultation and then at least two in-person visits.
This gives you a chance to ask questions about the testing process and talk to our HD nurse regarding considerations for insurance, privacy and payment options. After having your questions answered and the process explained, you then have time to think about if this is the right step for you at this point in time.
Many individuals choose to pay out-of-pocket for predictive testing rather than bill their health insurance. We will also discuss costs of testing during this conversation. If you decide to proceed, our team will help coordinate a time for an appointment.
First appointment in clinic
At your initial visit, you will meet with the neurology team, which includes the following members:
- Neurologist/physician assistant (PA)
- Social worker
- Genetic counselor
Our social worker or neuropsychiatrist will talk to you about your mood, daily activities, support system and plans for the future.
The neurologist/PA may perform a physical exam, and our genetic counselor will talk to you about your family history and the different possibilities for genetic test results and what they mean.
If you decide to pay out of pocket, you will have your blood drawn in our office at the end of the visit and our genetic counselor will personally deliver it to the genetic laboratory for analysis.
If you decide to use your insurance to pay for the appointment, then you will be given an order for the blood test at the end of your visit and will be directed to the fourth floor laboratory to have your blood drawn.
Before you leave we will set up an appointment in about four weeks for you to receive your test results in person.
Occasionally, we may recommend that you get additional care before having your blood drawn. For example, we may ask that you attend counseling or address another medical concern first. If this occurs we would not draw your blood during your initial visit, and our team will help to develop a plan with you.
Typically, the second in-person visit is when we disclose results. Again, results are only given in-person. We strongly encourage you to bring a friend or not-at-risk relative to support you during this visit.
You typically meet with the neurologist/PA, social worker and neuropsychiatrist at this visit. This is our standard practice and having more providers at your results visit does not reflect anything about the results themselves.
About a month after your results visit, our HD nurse will call to check in on you and see how you are doing.
Occasionally, patients ask us if they can just have their blood drawn and skip the rest of the process. Although we want to accommodate our patients’ requests, we feel it is important to follow the genetic testing guidelines set by the HDSA.
Most people find the process helpful, and even if they have grown up knowing about HD and have read about the genetics of HD, they still learn something new during the testing process.
The process also allows you to gather information from different specialists (neurologist, genetic counselor, etc.) and make a truly informed decision. The decision to move forward with genetic testing can be an emotional process and having a team that you get to know is beneficial in order to help you through this time.
Remember, this process is not in place to make it difficult to get genetic testing. Our goal is that this process will help you feel supported and encouraged throughout your genetic testing journey.
We generally discourage getting just the blood test with a provider who does not treat or specialize in HD. There are reports of test results being misinterpreted when collected through less experienced sources, such as a family practice clinic.
We understand that you may have been contemplating genetic testing for years, and when you are finally ready, you want to take the plunge as soon as possible. We have a dedicated scheduler who will work with you to get you seen as soon as possible, but it is best to plan ahead.
Remember, it takes four weeks to get the results back so the testing process, at a minimum, will be over a month. We take this process very seriously, and every team member is there to help you along the way, answer questions and work with you to make the process as easy as possible.
We recommend that anyone contemplating presymptomatic testing secure disability, long-term care and life insurance prior to testing, if possible.
Although the Genetic Information Non-discrimination Act (G.I.N.A) theoretically protects against discrimination based on your genetic results, it only applies to health insurance and employment. It does not protect against discrimination based on your genetic results for disability, long-term care or life insurance. It also does not apply once a person shows signs and symptoms of the disease.
The out-of-pocket cost of presymptomatic genetic testing includes the following:
- Visits with the neurologist/PA
- Genetic counselor,
- Social worker,
- The blood test
- The results visit four weeks later
Although we would love to be able to provide this service free of charge, we are not able to use health system resources without reimbursement.
Costs will be discussed during your initial phone consultation, and we realize for some people, cost can be a barrier to care. Our team is dedicated to work with you to develop a plan that is cost-effective for you without limiting your access to the appropriate care.
If you decide to use your health insurance to cover the costs of presymptomatic testing then they, and any future insurances carriers, would have access to your testing information. If you would like to maintain control of who has access to your genetic results we recommend paying out of pocket.
We take confidentiality extremely seriously when dealing with genetic information. Our team will work with you to maintain your privacy.
Although we cannot guarantee electronic security, our HD team and Rush University Medical Center have protocols in place to minimize any risks of security breeches. For example, genetic test results are kept in paper form, in a secure office, and not in the electronic medical records.
To talk to somebody from our HD team or to schedule a genetic testing appointment, please call our HDSA Center of Excellence at (312)563-2900. Then select option 2 and option 2 again and leave a message on our confidential voicemail. Please provide the best phone number where we can reach you.