Genetic Consultation

Presymptomatic Huntington Disease

Huntington's Disease (HD) is an inherited, neurodegenerative illness. The typical onset of HD occurs in persons in their 30's or 40's, but it has occurred in young children and in adults in their 80's.

There are three categories of DNA testing:

1. Confirmatory testing
   Confirmatory testing determines whether people showing possible symptoms actually have HD. Please contact Neurology at University Health Care Center, 315-464-4243, for an appointment.
2. Prenatal testing
   Prenatal testing is used to determine whether a fetus is at risk for HD. This can be performed by amniocentesis or chorionic villi sampling (CVS). CVS is not offered at University Hospital, but appropriate referrals can be arranged. Prior to prenatal testing, it is preferable that the parents attend the presymptomatic HD testing program described below. Preimplantation genetic diagnosis utilizing in-vitro fertilization (IVF) may also be an option for some families. Please contact the Perinatal Center 315-464-4458 with questions regarding prenatal HD testing.
   
3. Presymptomatic testing for people at risk for HD
   Presymptomatic testing determines by DNA testing the likelihood of an individual to have the gene for HD even though no symptoms are present. The Huntington's Disease Society of America recommends that at-risk persons who wish to undergo presymptomatic testing do so at an HD testing center. The testing centers involve teams of professionals who are knowledgeable about HD.

Presymptomatic Huntington Disease Testing Program

Pre-Test Requirements

The presymptomatic testing procedure at University Hospital requires appointments with three types of professionals prior to performing the test - a Board Certified Genetic Counselor, a neurologist, and a psychologist.

The Huntington disease presymptomatic team members include:

• Laura L. Thomson, MS, CGC
• Joe J. Hoo, MD (Genetics)
• Dragos Mihaila, MD (Neurology)
• Dennis Bogin, PhD (Psychology).

During the genetic consultation the family history is obtained and reviewed, the inheritance and genetics of Huntington disease is discussed in detail, the DNA test details are explained, and insurance concerns are addressed. The purpose of the psychology session is to ensure that the person about to undergo testing understands the implications of this knowledge and is prepared to receive the results. The neurologic exam will determine if any early symptoms of HD are present. If the person is found to be symptomatic, he/she will be offered the option of discontinuing the testing procedure. It also offers a measure of comfort to many patients while they are awaiting the result. The person may withdraw from the testing process at any time.

It is strongly encouraged that a support person accompanies the person to be tested to all sessions. The support person could be a spouse, companion or a close friend. It is not advisable to bring a sibling or another person who is also at risk for HD. The partner will be able to provide moral support during appointments, when awaiting test results, upon receiving the results, and thereafter.

The DNA Test

DNA testing is done on a blood sample. The blood sample is obtained at University Hospital and then sent to a reference laboratory. Test results take approximately 4 weeks to return.

Post Test Requirements

Presymptomatic DNA test results are only given in person.

Appointments

• Schedule a presymptomatic HD testing genetic consultation appointment with a genetic counselor.
  Patients are seen in University Hospital.
  
  
• Schedule a presymptomatic HD neurological evaluation:

Dr. Dragos
315-464-4243.
Patients are seen in the University Health Care Center.

• Schedule a presymptomatic psychological consultation appointment:

Dr. Bogin

315-474-5567.
Patients are seen at 327 W. Fayette, Suite 312, Syracuse, NY 13202.

COMMON QUESTIONS

What is Huntington's disease?

Huntington's disease (HD) is a hereditary degenerative brain disorder that causes both physical and mental problems. Symptoms most commonly start between 30 and 50 years of age, but onset may occur anytime from childhood to late adulthood. The features of HD can be thought of as a triad of motor, cognitive and emotional/behavioral disturbances. Motor symptoms may include chorea (dance-like involuntary movements), fidgeting or twitching, clumsiness, problems with balance, impairment in driving, altered handwriting or slurred speech. Cognitive symptoms may include difficulty in concentration, an alteration in the capacity to plan, or organize daily affairs. Emotional/behavioral symptoms are highly variable, but include changes in behavior or depression. Each person is affected differently and early symptoms may be very mild. Research is progressing rapidly, but currently there is no cure.

Is Huntington's disease inherited?

Yes. It follows an autosomal dominant pattern of inheritance. This means that each child (male or female) born to an individual with HD has a 50% (1/2) chance of inheriting the gene that causes HD. Both men and women may pass on the HD gene to any offspring. The age of onset and initial symptoms may vary between family members.

Can I find out if I will have HD in the future?

Yes. A blood test is now available that can determine, in almost all cases, whether a person has the HD gene. Presymptomatic DNA testing for HD is available for individuals 18 years of age or older. The Huntington Disease Society of America (HDSA) has published specific guidelines for Centers providing presymptomatic testing.

I have a general question about the presymptomatic testing program. Who can I talk with?

Call the Division of Genetics, University Hospital at 315-464-7610, and ask to speak with the HD genetic counselor.

Will my health insurance cover the cost?

Many health insurance policies will cover the cost of testing and the associated medical visits. However because each policy is different, we suggest individuals obtain predetermination of benefits if there is concern regarding the level of coverage. Prior to contacting your insurance company, we suggest that you speak with the HD Genetic Counselor. Due to concerns regarding potential discrimination by insurance companies, many individuals prefer to pay for presymptomatic blood test themselves.

My insurance plan does not list Dr. Hoo. Is there another geneticist I can use?

Dr. Hoo is the only Board Certified geneticist in Central New York. An out-of-plan referral should be able to be obtained.

Who actually provides the Genetic Consultation?

Presymptomatic HD genetic counseling is provided by Laura L. Thomson, MS or Bonnie R. Braddock, MPH, Certified Genetic Counselors, working under the direction of Joe J. Hoo, MD, a physician specializing in genetics.

My insurance plan does not list Dr. Dragos. Is there another neurologist I can see?

Dr. Dragos is an adult neurologist specializing in movement disorders such as HD. You may be able to obtain an out-of-plan referral based on this information. If your insurance refuses out-of-plan referral for Dr. Dragos then an in-plan neurologist can be used if necessary. Please call and speak with the HD genetic counselor at 315-464-7610. Have the name, address, phone and fax number of the neurologist you would like to use.

My insurance plan does not list Dr. Bogin. Is there another psychologist I can use?

Dr. Bogin is an adult psychologist with experience in Huntington disease presymptomatic testing concerns. You may be able to obtain an out-of-plan referral based on this information. If your insurance refuses out-of-plan referral for him then an in-plan neurologist can be used if necessary.

Please call and speak with the HD genetic counselor, 315-464-7610. Have the name, address, phone and fax number of the psychologist/clinical social worker you would like to use.

Can I have presymptomatic HD testing without seeing all these specialists?

Not through this program.