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Precision Medicine & Pharamacogenetics

Precision Medicine & Pharmacogenetics, sometimes referred to as "personalized medicine," is an area of medicine that focuses on a patient's genes, environments, and lifestyles. This form of medicine allows physicians and researchers to predict more accurately which treatment is best for you or your child. Today, physicians' have moved away from the "one size fits all" approach, towards a personalized treatment, by taking into account a patient's genes and key health determinants.

What is precision medicine? 

Precision medicine is sometimes called "personalized medicine" or "genomic medicine," in which the treatment methods are tailored for each child.

If your child needs certain drugs for treatment, the doctor can request a DNA test. The test looks at specific genes to determine how your child's body will respond to the treatment. This helps doctors prescribe the right drug at the correct dose to help avoid the drug's side effects.

Everyone is genetically unique, and not all people will respond the same to all drugs. The genes passed down from parents to children, environment, conditions, and symptoms all influence how a person responds to treatment.

DNA (or deoxyribonucleic acid) is the material that makes up our bodies and makes us genetically unique. Our DNA is like instructions that tell our body's cells what to do and how to do it.

Why do we need a sample of your child's DNA?

Doctors use the DNA sample to make treatment decisions to provide the best care possible for your child by:

  • Helping select the best medicine for your child
  • Helping decide which medications to avoid
  • Helping doctors determine the best-individualized dose
  • Helping monitor any side effects of the medicine

Precision Medicine is often used in treatment decisions for cancer; cardiovascular, gastrointestinal and neurological conditions; rare genetic disorders; pain; psychiatry and addiction.

How do we take a sample of DNA?

A DNA sample is taken by either a small blood sample (less than one teaspoon) or a cheek swab. The sample is sent to the lab, where the DNA is extracted. 

All DNA samples and test results are treated with patient confidentiality. We do not share test results with insurance companies, organizations, or non-hospital employees.

Are there costs associated with a DNA test?

There is a cost for this test. Your insurance will be billed, and the patient/parent will be responsible for any payment not covered by insurance.

  • Check your insurance policy for more information about insurance coverage.
  • Ask your doctor if a precision medicine test is an option for your child.

Which drugs are covered under the ACH-PGx test?

How is the PGx test performed?

The ACH molecular pathology laboratory will extract and purify DNA from the patient's blood or buccal sample.  DNA is amplified and subjected to a 175 SNP comprehensive, custom-designed genotyping panel using a Thermofisher QuantStudio 12/Open Array platform. Genotyping data are uploaded to Translational Software, Inc. for interpretation using current US FDA and Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines.  The final report is electronically uploaded into the patient's electronic patient medical records.  Best Practice Alerts (BPAs) will trigger automatically and suggest medication changes based upon the patient's metabolizer phenotype status with each gene/drug combination.

Who interprets the PGx test?

Data generated by the Pathology Lab is sent as discrete data elements to Translational Software, Inc. (TSI), for interpretation based on published recommendations from the FDA and the Clinical Pharmacogenomics Implementation Consortium (CPIC). This data is used by Epic Genomic Indicators and Best Practice Advisories to provide clinicians decision support guidelines within their current clinical workflow. Combining the laboratory test results with TSI content provides data interpretation returned automatically to your patient's Electronic Health records.

Where can I learn more about metabolizer phenotypes?

What is the turnaround time of the PGx test?

The current turnaround time is two weeks. We anticipate a 1-week turnaround time once the PGx test is used more often by our clinicians.

What happens to the DNA sample?

Each DNA sample is indefinitely maintained unless requested to be destroyed by the patient or patient's legal guardian.  Stored DNA can be used for additional genetic testing.  Stored DNA can also be used for research purposes, ONLY if consent is provided by the patient or the patient's legal guardian.

How much does a PGx test cost?

The ACH billing department is currently evaluating the cost and reimbursement of the ACH PGx test.  We are confident that in-patient users will have the PGx test covered under Medicaid and other private insurance based upon currently approved CPT codes.  At this time, patient billing for the PGx test is being held until we have a better understanding of insurance reimbursement for this first in the nation, state-of-the-art test.

Please note that the PGx test is ONE comprehensive panel. At the time of EPIC order entry, we ask that you select a PGx panel sub-category most relevant to the reason you are ordering this test. Each panel sub-category is linked to specific CPT codes that will be submitted to insurance for reimbursement.

How will I receive the PGx test results?

For physicians without access to ACH EPIC, a report will be available in PDF format. If you have questions or need assistance interpreting a pharmacogenomics result, please email a pharmacy team member at elchynskia@archildrens.org.