People consider genetic testing for many reasons, such as having a child with special needs, having a family history of a disorder, planning for pregnancy or simple curiosity. Here is important information to consider if your family is considering genetic testing.

BENEFITS of Genetic Testing

A genetic diagnosis can help put pieces of a puzzle together for a family. Genetic diagnoses are made through diagnostic testing or genetic testing (or both) by a medical geneticist or other genetics expert. A genetic diagnosis may:

  • Help doctors take better care of a child with special needs.
  • Provide a name for a condition and answers for a family.
  • Guide a family to community resources geared to a specific genetic condition.
  • Connect a family to other parents of children with the same diagnosis.
  • Provide the opportunity to join clinical trials on a specific syndrome.

Parents of children with genetic syndromes often become experts on that syndrome; some parent social media groups have led to the development of foundations for research.

LIMITATIONS of Genetic Testing

  • Genetic testing does not always provide a diagnosis or an answer.
  • There are different types of diagnostic genetic tests. Working with a genetics expert ensures that the right test is ordered and administered.
  • There may be no direct benefit to a child, even if a genetic diagnosis is made.

RISKS Associated with Genetic Testing

There is a risk for genetic discrimination with all genetic tests. Currently there is a federal law called GINA (Genetic Information Nondiscrimination Act), which prevents health insurers, group health plans and employers from discriminating on the basis of genetic test results. However, this protection does not extend to long-term care, life or disability insurance. It also does not apply to individuals who are in the military. To find out more about GINA, visit www.genome.gov/genetics-glossary/Genetic-Information-Nondiscrimination-Act

Genetic testing may reveal information that can be unexpected or upsetting, such as biologic relationships not being as stated or recognition that a family member has a genetic disorder.

Seek a Professional

Consultation with a medical geneticist or genetic counselor is recommended if you’re considering genetic testing, so that risks, benefits and limitations can be thoroughly reviewed. A genetic professional will record a thorough family history to assess whether or not an individual is at increased risk for a genetic condition. The goal is to ensure that people who choose to have genetic testing do so with informed consent and the correct genetic test is ordered. In some cases, a parent or individual may decline to have genetic testing done due to concerns about genetic discrimination and privacy or the potential for psychological harm.

Direct-to-Consumer (DTC) Testing

Direct-to-consumer genetic tests (DTC), such as 23andMe, allow consumers to “order” genetic testing without guidance of a medical professional. These are not diagnostic tests, so results from them should not guide medical decision-making. If something runs in your family, see your doctor, who may provide a referral to a genetic specialist for appropriate risk assessment and diagnostic testing. If you decide to send in a sample, read information provided by the company carefully and ask these questions:

  • What does the company do with my genetic information?
  • Will my information be shared with third parties?
  • Will the company protect my genetic privacy?
  • How does the company secure the information collected from me?
  • Who will help me interpret the results (genetic tests do not always provide a “yes” or “no” answer for risk of developing a genetic disease)?
  • What do the results really mean for my health? Do not make decisions based on incomplete, inaccurate or misunderstood information.

Resources

Genetic counseling is recommended before and after having genetic testing. These websites can help find local genetic services:

National Society of Genetic Counselors (NSGC)
www.nsgc.org/findageneticcounselor

American College of Medical Genetics (ACMG)
www.acmg.net

Lisa Salz, MS, LCGC is a genetic counselor at Rady Children’s Institute for Genomic Medicine.

To read the full article, including an account of how genetic testing helped one family diagnose their baby with Kabuki syndrome after months of confusion and frustration, pick up the 2019 issue of Flourishing Families.