When genetic testing is needed for a complex medical condition, working with a team that can help proactively counsel the family on what to expect is vital. Parents frequently report that genetic testing is a stressful, anxious experience, even when results are conclusive.

As genetics continues to discover new conditions, detailed testing often finds genetic changes that we as providers may not fully understand, let alone a patient family. Variants of Unknown Significance, or VUS, are frequent findings in genetic testing and have many potential causes.

  • First, because genetic conditions may be inherited, a VUS could guide us to further test a child’s parents to better explore if a genetic change is the answer.
  • A VUS could be related to mutations that happen in a developing fetus that have nothing to do with a parent's genetics.
  • Finally, we could find that the VUS is relatively normal. Because our genetics are all different, some degree of uniqueness is present in the genetic material of everyone, so a VUS may not be significant.

These options scratch the surface of further questions a family might have after an initial inconclusive genetic test. At Gillette Children’s, genetic counselors, geneticists, and neurologists assist with all aspects of genetic testing and discovery with a patient family.

A Diagnostic Quest

The neurology team at Gillette is happy to partner with families in what might become a diagnostic quest to find answers for their child.

As part of that journey, we discuss with the family what genetic testing means, interpret the genetic reports, provide counsel regarding results, and guide further family testing. Beyond the interpretation of results from a genetic test, there is no single genetic test, and sometimes choosing the best test and subsequent tests will require the assistance of a skilled team.

Our team also supports educational needs and the complicated path of insurance authorizations. Families deserve this holistic view of their genetic testing experience, and my team and I are proud to provide it for them.

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