Know your options

Should I get tested?

graphicMany people call to ask our opinion of whether they should get tested or not. Though the answer to this question varies quite a bit due to individual circumstances and available resources, there are some basic issues to consider when making this important decision.

Testing for the HD gene is done on either a “confirmatory” diagnostic basis—when people are displaying physical (motor) symptoms, and/or cognitive decline, personality changes, and have a positive family history of HD as determined by a neurologist— or on a “presymptomatic basis” (i.e. no motor symptoms are present but the person knows their parent has HD or possibly that their grandparent died of HD but their parent died too early to develop symptoms, etc). Some testing centers do one of these types of testing and not the other.

There are four recommended places in NC to pursue genetic testing: The University of North Carolina at Chapel Hill, Duke University in Durham, NC, Fullerton Genetics Center in Asheville, and Wake Forest University Baptist Medical Center in Winston-Salem, NC. These testing sites follow published nationally- accepted guidelines for the best and safest way to test people at-risk for HD and are the only four sites in NC where we would recommend pursuing genetic testing. All four places offer confirmatory testing; a neurologist would evaluate for motor symptoms and if they are observed, testing could be ordered.

Additionally, UNC-CH, Fullerton Genetics Center, and Duke University offer pre-symptomatic testing, otherwise known as “predictive” testing. This is a good option for people who are not displaying definite symptoms of HD but want to learn if they carry the HD gene.

Why Should I Pursue Genetic Testing at an Established HD Testing Site?

Four basic reasons:

  1. You can be assured that you will be treated according to an established national protocol that is recommended for HD testing
  2. Your blood sample will be handled securely and sent to a reputable lab which has done thousands of such tests with virtually no errors.
  3. Your results will be interpreted accurately and you will have staff available to whom you may ask questions and process the implications of your test results.
  4. HD Reach collaborates with all three testing sites in NC to coordinate counseling support when necessary for people going through the testing process since many people at-risk for HD experience significant emotional distress at the time of testing.

We have unfortunately heard many accounts from people who were tested at sites that did not follow accepted standard protocol for HD testing; these stories tell of times when blood tests were misinterpreted, resulting in false negatives and false positives, and when results of positive tests were given inappropriately, causing undue stress.

UNC-CH’s HD Genetic Testing Program and Fullerton Genetics Center are the only programs in NC that feature certified genetic counselors who are available to speak with families specifically about HD. Many people also opt to go to UNC for testing because they are interested in information about pre-implantation genetic diagnosis (PGD), which is when an embryo created by in vitro fertilization (IVF) is tested for HD. People can opt to have their embryos tested prior to implantation so that they can know for sure that the embryo that is eventually implanted does not carry the gene for HD. It is possible for a parent to go through this procedure without ever finding out their own HD status. All other options available could be discussed as well, including adoption, egg/sperm donation, CVS (chorionic villus sampling), and amniocentesis.

Genetic counseling services are also helpful to people who have already had children; it can be very helpful for a parent to speak with a genetic counselor about whether to get tested, and about how to talk to their kids about HD and what it means to be at-risk of developing it.

Also, there are times when a person’s genetic test results are considered to be in the “intermediate range” and these kinds of results are always best discussed with a genetic counselor so that a person understands the implications.

Juvenile HD makes up about ten percent of all HD cases. If a child at-risk for HD is exhibiting motor symptoms or severe behavioral problems possibly indicative of JHD, a neurologist may recommend genetic testing for someone under the age of 18. Typically, however, the established testing protocol recommends that a person be at least 18 before being tested for HD.

Reasons People Desire Testing/To Know Their Genetic Status…

People “want to know” because:

  • They desire the information in order to make decisions about family planning
  • They want to plan for their family’s financial future
  • They want to make decisions about what type of lifestyle they want to have
  • They simply feel like they cannot stand not knowing whether they carry the HD gene or not any longer
  • They want to make a strong case for themselves when they apply for SSDI (Disability) benefits.

How Much Does Genetic Testing Cost?

Various estimates of out-of-pocket cost for genetic testing for HD range between $1,000- $1,200 depending on where one gets tested. Some of this cost may be reimbursable by insurance though many choose to pay out-of-pocket for confidentiality reasons. Unfortunately, there is no fund established through either HD Reach or the NC Chapter of HDSA that could help pay for genetic counseling. If cost is an issue for you, it is possible that the testing sites may be able to enroll you in their charity care programs; please contact HD Reach for more information.

There are four recommended places in NC to pursue genetic testing: The University of North Carolina at Chapel Hill, Duke University in Durham, NC, Fullerton Genetics Center in Asheville, and Wake Forest University Baptist Medical Center in Winston-Salem, NC. These testing sites follow published nationally- accepted guidelines for the best and safest way to test people at-risk for HD and are the only four sites in NC where we would recommend pursuing genetic testing. All four places offer confirmatory testing; a neurologist would evaluate for motor symptoms and if they are observed, testing could be ordered.

Additionally, UNC-CH, Fullerton Genetics Center, and Duke University offer pre-symptomatic testing, otherwise known as “predictive” testing. This is a good option for people who are not displaying definite symptoms of HD but want to learn if they carry the HD gene.