Receiving complicated genetic testing results can be overwhelming for a patient; as a healthcare professional, you are often expected to provide guidance as to the next steps the family should take. Here are a few tips to consider when establishing a treatment / management plan after receiving SNP microarray results.

If Results Are Normal

  • If you suspect a specific genetic diagnosis, further testing may be indicated to look for single gene changes or other genetic changes that may not be able to be detected through this technology.
  • If the patient has more than one of the following features, a clinical genetics evaluation may be warranted:
    • Intellectual disabilities / developmental disabilities
    • Dysmorphic features
    • Family history of intellectual disabilities
    • Overgrowth or growth deficiency
    • Behavioral problems
    • Seizures as cited in J Med Genet 2004;41:241-248

To refer a patient for clinical genetics evaluation within Cincinnati Children’s, call 513-636-4760 or fax a referral to 513-636-7297.

If your patient is outside Greater Cincinnati, you may contact the genetic counselor at our lab at 513-636-1324 to locate a genetics center closer to home.

If Results Are Abnormal

  • Gather information on your diagnosis to share with the patient and family.
  • Outline a management plan with patient and family.
  • Determine if other specialists are needed as part of this patient’s medical team and make those referrals.
  • Obtain blood from parents for additional testing to clarify risks in family if indicated.
  • Contact the genetic counselor or geneticist with our lab if questions or concerns arise.

If Results Are Uncertain

  • Discuss with patient and family that their results may or may not explain the patient’s current symptoms.
  • Testing blood from parents is the best next step in these situations to determine if this is possibly an inherited change that may be benign. Contact the laboratory genetic counselor to obtain appropriate paperwork for this testing to be done free of charge in regions of unknown significance.
  • Establish a follow-up plan with patient to review results when new information for interpretation may be available.
  • Contact the genetic counselor or geneticist with our lab if questions or concerns arise.