Considering genetic testing?
A guide for caregivers of children with a neurologic condition
What are the benefits of genetic testing?
Genetic testing can help determine if If a genetic diagnosis is found, families can
there is a genetic cause or risk factor connect with other families and advocacy
for a neurologic disorder or condition. groups specific to their condition.
Genetic testing results can provide
diagnostic information that eliminates There may be increased opportunities to
the need for other invasive, take part in clinical studies based on genetic
unnecessary or expensive diagnostic diagnoses.
tests, ultimately shortening the time to
diagnosis.
Genetic information can identify risks for
Both positive and negative results can other health concerns and provide
provide information for treatments that information about the chance of additional
target the causes of disease rather than family members inheriting the condition to
just suppressing symptoms, change to assist with family planning.
clinical management and improve
outcomes.
While genetic testing can be beneficial, there may be emotional, social, or financial consequences as well. Genetic
counseling can be helpful in walking families through the process. Also, genetic testing is not a perfect science and it does not
always result in a diagnosis and sometimes, even with a diagnosis, there may be no current treatment options.
What are the types of genetic tests for child neurology?
Genetic tests analyze the building blocks (nucleotides) DNA Sequencing: These tests sequence the
of our genetic code (DNA). DNA is found in each of our nucleotides that make up the genetic code to
cells and make up the genes that tell the cells what identify any changes compared to what is
proteins to make, which then create structures in our expected. Common sequencing tests
body, such as brain, muscles, heart, and skin. DNA also include:
helps create enzymes that are responsible for chemical
reactions and biological functions. Gene Panels: sequence a select number
of genes associated with a condition or
Genetic variants may cause or contribute to disease, of group of conditions, such as epilepsy.
but also can be silent or benign. Genetic variants can be
inherited from a parent, but also can be new and not Whole Exome Sequencing (WES):
inherited. Some common ways to test for genetic sequences all 21,000+ human genes,
variants are: which is only about 2% of our overall DNA.
Whole Genome Sequencing (WGS):
Chromosomal Microarray Analysis (CMA):
sequences all of our DNA, which is over 3
Looks for missing (deletions) or extra
billion nucleotides, and includes all the data
(duplications) pieces of DNA.
of WES and CMA, the remaining 98% of our
DNA, including mitochondrial DNA. This test
also has the ability to assess for DNA repeats
of different sizes that might cause disease,
such as myotonic dystrophy.
Seek consultation from a medical specialist about
choosing the appropriate genetic test. Most sequencing
tests require only a saliva sample or cheek swab, but
these tests can also be run on blood samples.
What is the cost of genetic testing and how is it covered?
As genetic testing technologies have become more sophisticated and accessible, costs have dropped dramatically.
Depending on the type of genetic testing, self-pay costs can range from under $100 up to $3,000 per person. Often to get
useful results, additional family members must be tested, increasing the total cost for genetic testing. Nevertheless, it is
expected that costs will continue to drop further as technologies advance and competition grows.
Initially, many insurers and other payers were reluctant to cover the costs of advanced genetic testing, but as research and
medical knowledge has proven the importance and cost effectiveness of such testing, it is increasingly common to obtain
genetic testing as a covered service. Most patients are able to get genetic testing at a partially or fully covered rate. If not,
labs often have policies that will help lower the cost to a patient and their family. There are also genetic testing companies
that provide specific tests at no charge. Additionally, various research studies may include genetic testing at no charge.
What role does genetic counseling play?
This important counseling can help to:
Advise families on the Order appropriate Help a person and Find advocacy groups,
benefits and limitations genetic tests. their family understand clinical research
of genetic testing. the results and the opportunities, and
implications for clinical resources.
management.
Learn More Visit [Link]/GeneticTesting
Production generously
supported by: BioMarin,
Neurogene, PTC Therapeutics,
and UCB.
