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Acceptance of Asthma Pharmacogenetic Study by Children and Adults
Ann Chen Wu1, Robert Davis, Kelan Tantisira
1Center for Child Health Care Studies, Department of Population Medicine, Harvard Pilgrim Health Care Institute and Harvard Medical School, Boston, MA ; Department of Pediatrics, Children's Hospital, Boston, MA ; Kaiser Permanente South East, Atlanta, GA.
Insights
Pediatric and adult asthma patients are willing to participate in genetic studies. Buccal smear collection is preferred over blood draws for biospecimen donation in pharmacogenetic research.
Area of Science:
- Pharmacogenetics
- Genomic Medicine
- Pediatric Research
Background:
- Pharmacogenetic testing holds promise for personalized medicine by tailoring drug prescriptions to individual genetic profiles.
- Validation in diverse, real-world populations, including children, is crucial for the widespread adoption of pharmacogenetic tests.
- Limited data exists on the willingness of pediatric populations to provide samples for genetic studies compared to adults.
Purpose of the Study:
- To determine the willingness of pediatric and adult persistent asthma patients to donate specimens for DNA extraction and genetic research.
- To compare patient preference and acceptance of blood versus buccal smear specimen collection methods for genetic studies.
Main Methods:
- A study involving 644 persistent asthma patients (ages 4-38) with high inhaled corticosteroid use.
- Randomization of 60% of subjects to provide blood specimens and 40% to provide buccal smear specimens.
- Informed consent, phone surveys, and specimen collection conducted by research assistants.
Main Results:
- Buccal smear collection was more readily accepted than blood draws (30% vs. 16% sample provision).
- Pediatric subjects showed a higher willingness to provide specimens (23%) compared to adult subjects (15%).
- Buccal smear group showed higher likelihood of providing specimens (RR 1.21) compared to blood group.
Conclusions:
- Pediatric and adult asthma patients exhibit comparable willingness to participate in genetic research.
- Both pediatric and adult participants show a preference for buccal smear collection over blood draws for genetic studies.
Background:
Pharmacogenetic testing may change clinical medicine by allowing clinicians to tailor medications based on a patient's genetic makeup, however, these tests must first be validated in large, real-life populations of subjects that include children. A dearth of knowledge exists for whether pediatric populations are as willing as adult populations to provide samples for such studies.
Objective:
(1) To assess whether pediatric and adult patients with persistent asthma are willing to provide specimens for DNA extraction and genetic studies. (2) To assess whether patients' willingness to provide blood as compared to buccal smear specimens differ.
Methods:
Of 644 patients ages 4-38 years who had three or more prescription fills for inhaled corticosteroids in one year, 60% (385) were randomized to the blood specimen group and 40% (259) were randomized to the buccal smear group in order to study acceptance of different biospecimen collection methods. Research assistants contacted subjects to obtain consent, perform a phone survey, and request a specimen.
Results:
There were no baseline differences between subjects randomized to the blood specimen group versus buccal smear group with respect to age, gender, or number of dispensings of inhaled corticosteroids. Of 259 subjects in the buccal smear group, 30% (78) provided samples, and of 385 subjects in the blood specimen group, 16% (60) provided samples. Subjects randomized to the buccal smear group were more likely to provide specimens for genetic study compared to subjects randomized to the blood specimen group (RR 1.21; 95% CI 1.10 - 1.32), even after adjusting for age. Pediatric subjects were more likely to provide specimens for genetic study than adult subjects with 23% (113) of pediatric subjects providing samples and 15% (25) of adult subjects providing samples (p=0.03).
Conclusion:
Children with asthma are as likely to participate in genetic studies as adults. Both children and adult subjects are more likely to provide buccal smear specimens rather than blood specimens for genetic study.
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