Pharmacogenetic Testing in Patients with Autism Spectrum Disorder Evaluated in a Precision Medicine Clinic.
Rachel Goodson, Jennifer Wagner, Tracy Sandritter and 3 others
PMID 37807195WHAT IT FOUND
In youth with autism referred for genetic drug testing, poor medication response was a referral reason for 66% and adverse reactions for 49%.
More co-occurring diagnoses went along with more reactions. This was descriptive.
Key findings
01All 202 patients had co-occurring medical or psychiatric conditions, and the commonest referral reasons were poor medication response (66%) and adverse drug reactions (49%).
02Each additional co-occurring mental health diagnosis was linked with an estimated average 13% increase in nonpsychiatric adverse reactions, while the 9% estimate for psychiatric reactions was not statistically significant.
03Higher diagnosis counts were linked with a higher probability of poor CYP2D6 metabolism, and more nonpsychiatric adverse reactions were linked with a lower probability of rapid or ultrarapid CYP2C19 metabolism.
STILL TO COME
How it was doneWhat they found
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What it does not show
It is a retrospective record review from one precision medicine clinic, with no comparison group, so it describes referred patients rather than testing what changes result. Patients were selected because they had been referred for medication problems, so results may not apply to all autistic patients. Pharmacogenomic testing was incomplete: CYP2D6 results were available for 88% of patients, CYP2C19 for 66%, and both for 66%. Several associations were exploratory and not firmly established: the psychiatric adverse reaction estimate per additional diagnosis had p = 0.069, and the medication change estimate per additional psychiatric medication had p = 0.107. The sample had limited racial/ethnic diversity: 83% White, 9% Black, and 8% multiracial/other. It differed from the hospital's autism clinic and overall patient population, which raises access and referral bias concerns. The paper does not test whether pharmacogenetic results improved medication outcomes; it reports associations in clinical records.
Declared interests
The authors declared no conflict of interest.
The easy way to misread this
Do not read this as proof that genetic drug testing improves autism care. It was a descriptive record review of patients already referred for medication problems, with no control group and no outcome that showed benefit.