If your family has a history of dementia or motor neuron disease, you may want to meet a genetic counselor to discuss your risk to have a genetic disorder. A genetic counselor is a licensed health professional with a specialized graduate degree in genetics and counseling. She can determine if there is an appropriate test and can provide guidance as you decide if genetic testing is right for you.

What is Genetic Counseling?

Genetic counseling is the process of helping people understand and adapt to the genetic contributions to disease. The process integrates the following elements:

• Interpreting family history and medical information to assess a person’s risk of disease or risk for family members
• Education about inheritance, testing, management, prevention, resources and research
• Counseling to promote informed decision-making and adaptation to the risk or condition

What to Expect in Your Consultation

A genetic counseling appointment includes the provision of information, a discussion of a patient’s genetic questions or concerns, and an offering of support, guidance and/or additional referrals.

During a consultation, a genetics counselor will:

• Obtain your family history
• Determine your risk for a genetic disorder based on review of your personal medical history and family history
• Discuss the potential impact of genetic testing on your current and future health, care, financial and/or family planning
• Identify the appropriate genetic test and facilitate sample collection
• Interpret the results of genetic tests
• Offer supportive counseling in the face of difficult situations and feelings
• Respect your individual beliefs, traditions and feelings
• Serve as patient advocates
• Discuss reproductive options
• Explore strategies for communicating information to others, especially family members who may be at risk
• Provide written materials and referrals to support groups, other families with the same or similar condition and/or local and national service agencies

A genetic counselor will not:

• Tell you which decision to make
• Advise you not to have children
• Recommend that a woman continue or end a pregnancy
• Tell you whether to undergo testing for a genetic disorder

What is Genetic Testing?

Genetic testing is a laboratory test that looks for changes, called variants, in a person’s genetic material. The test is usually performed on a blood sample, but sometimes other tissues in the body can be tested. In some situations, saliva can be tested. The genetic material that is analyzed could be chromosomes, genes or DNA. The result of a genetic test can confirm or exclude a suspected genetic condition or help determine a person's chance of developing a genetic disorder or passing it down to children.

Many neurodegenerative diseases can be separated into a genetic form and non-genetic, or sporadic, form. Genetic testing can help distinguish between the two forms, especially when the symptoms of genetic and non-genetic forms of illness are similar or have overlapping symptoms.

For example, about 20% of FTD cases are genetic. About 80% of FTD cases have no identifiable genetic cause. These cases are considered non-genetic or sporadic. Genetic FTD and non-genetic FTD feature similar symptoms. Knowing whether or not a person’s FTD diagnosis is genetic or non-genetic has important implications for family members. Usually a person’s family history, when obtained by a genetic professional knowledgeable about neurodegenerative diseases, can provide valuable information about the likelihood of a genetic disorder. However, in certain instances, a review of the family history provides incomplete information about risk for others. Genetic testing may clarify risk for relatives.

If a family wishes to pursue FTD genetic testing, testing should first be performed on a person who carries a diagnosis of FTD or related condition. This is called diagnostic genetic testing. If a FTD-causing mutation is identified, genetic testing can then be offered to healthy family members at risk. This is called predictive genetic testing. Whether or not family members at risk pursue genetic testing is a personal choice. There are risks and benefits to consider when seeking predictive genetic testing for a neurodegenerative disease. Predictive genetic testing also has limitations.

Risks of Predictive Genetic Testing

Learning genetic results may

• Make you feel sad, angry, afraid, guilty or hopeless
• Raise concerns about your ability to obtain or keep insurance

Benefits of Predictive Genetic Testing

Learning genetic results may

• Make you feel relieved
• Assist you in future care, financial, or family planning
• Help you inform other family members at risk

Limitations of Predictive Genetic Testing

Genetic results

• Do not change doctors’ recommendations about diet, exercise or lifestyle habits that prevent neurodegenerative diseases – there is no known prevention for neurodegenerative disease
• Cannot predict accurately when a person will develop symptoms

If you decide to have predictive genetic testing, a blood sample is collected after consultation with a genetic counselor and a physical exam with a neurologist or medical geneticist. The sample is sent to a specialized laboratory for analysis. Results are usually available after several weeks, depending on which test was ordered. Results are returned to the neurologist and/or genetic counselor, who will discuss them with you in person.

What Do the Results Mean?

The interpretation of results from a genetic test varies. Interpretation depends on

• Which test was ordered
• Whether or not the person tested has symptoms
• Which diagnosis a symptomatic person has
• The family history of the person tested

This page is an overview of genetic results interpretation. It is not a personalized result report. For personalized information, you should consult a genetic counselor or other genetic professional.

There are three possible results of genetic testing.

Positive Result

• A positive result means a variant or mutation was found in a gene known to cause neurodegenerative disease.
• If you have symptoms, this result confirms you have a genetic condition. If you have no symptoms, this result means you are at increased risk to develop the genetic condition in the future.
• This result means there could be an identifiable risk to other family members.

Negative Result

• A negative result means a variant or mutation was not found in a gene known to cause neurodegenerative disease.
• If you have symptoms, this result means you do not have the genetic condition for which you were tested.
• If you have no symptoms and do not already know the gene mutation that is running in your family, this result should be interpreted with caution. This result does not always mean that you are free of risk for a neurodegenerative disease.

A Variant of Uncertain Significance (VUS)

• A variant of uncertain significance, or VUS, is a change in a gene whose interpretation is not known.
• If you have symptoms, a VUS can neither confirm nor exclude a genetic diagnosis. More information is needed to interpret this result. Sometimes a laboratory will have more information. When a laboratory has no additional information, this result cannot be interpreted further.
• If you have no symptoms, a VUS may increase or decrease your future risk to develop a neurodegenerative disease. Or, a VUS could be neutral and have no impact on risk for a disease. In some instances, this result cannot be interpreted further.

The Genetic Information Nondiscrimination Act

The Genetic Information Nondiscrimination Act (GINA) was enacted on May 21, 2008, to protect Americans from discrimination by health insurers or employers based on genetic information.

GINA & Health Insurance

GINA makes it illegal for health insurers to

• Request, require or use genetic information to make decisions about eligibility, premiums and coverage terms
• Consider a genetic test result a pre-existing condition

GINA & Employment

GINA makes it illegal for employers to

• Request, require or use genetic information to make decisions about hiring, firing and promotion
• Limit, segregate or otherwise mistreat an employee

What is Not Covered by GINA

• Life, long-term care and long-term disability insurance
• People with symptoms of disease due to a genetic cause
• People in the US Military or veterans receiving health care through the Veterans Health Administration – the US Military and the VA have developed their own policies to protect people with a genetic diagnosis