Screen school-age children for ADHD by testing, if feasible, or by electronic health record search. Perform WGS on children as the preferred strategy to identify new genetic associations and confirm previously reported genetic associations. If WGS is not possible, develop a marker panel and test children who have ADHD for known or suspected genetic factors. Follow children by periodic medical evaluations and school performance... more »

1) Collect the genetics of drug metabolizing enzymes from the genetic samples in the All Of Us study.
2) Describe the population genetics of these specific genes. How many people are normal (extensive metabolizers, EMs)? How many have other profiles? How many genes is the "average person" abnormal for?
3) By collecting data for "allergies" (some of which are intolerances, not true allergies) and medication reactions requiring... more »

Establish CYP profiling as a standard part of data collection in all large studies, especially related to pain management, immunology, cardiovascular dysfunction, pharmacology. Based upon existing research, it can be anticipated that CYP profiles and polymorphism data may partition certain studies' patient populations into groups with common outcomes (negative, positive, neutral.) Regarding the opioid crisis alone, CYP... more »

We all aspire for precision Medicine particularly when it comes to response to drugs , pharmacogenomics , cancer treatment or heart disease , yet logistic and economical barriers still keep this far from universal application.

The proposed study would answer if precision medicine practice based on Ethnicity is appropriate or not.

Overactive bladder is highly prevalent with significant impact on quality of life. Medications are utilized despite variable efficacy, high side effect burden, and poor persistence on therapy. This study will identify an overactive bladder cohort who have been prescribed antimuscarinic or beta-agonist medication to relieve symptoms. We hypothesize relief of symptoms will be based on the individuals pharmacogenomics. Personalized... more »

1) Bin asthma patients for hypersensitivity to inhaled corticosteroids (hypersensitivity- "dose dependent slow but steady strangulation"). Improvement may be determined simultaneously, allowing complete characterization of response to treatment, according to drug, dosage, duration of treatment, etc. While this study is limited to inhaled corticosteroids, other drug treatments may be performed similarly.
2) Determine... more »

Conduct a RCT to explore genetic and environmental risk factors associated with dose escalation leading to misuse or abuse of prescribed opioids. Use EHR and PDMP data to capture patient demographic, history, and treatment information. Goal is to determine if there are risk factors that predispose pain patients to opioid abuse.

Many people suffer from reflux and GERD, including patients with Sjögren's and scleroderma. Recently, bone fractures occurring with long-term proton pump inhibitors have been reported, and this, in conjunction with commonly used corticosteroids, which can lead to fragile bones, has led to many Sjögren's patients being fearful of treating their GERD with PPIs. This study would focus on identifying a new class of drugs... more »

After a drug has been approved, big ADRs are reported to MEDRA, but smaller side effects are not usually reported. While some may be known and in the drug label, novel side effects may occur in populations not included in the original trials. Small effects may lead to discontinuation or poor compliance.. Collecting better data about side effects and combining with genomic data could give improved pharmacogenomic prediction... more »

To assess and compare the level of understanding, engagement and satisfaction in patients who received pharmacogenetic results and are randomized to 1) a web-based portal with personalized educational content tailored to subject's results or 2)standard of care. Subjects will be surveyed to determine 1) understanding 2) engagement and 3) satisfaction.

Goals:To study the epidemiology of cardiovascular complications of cancer therapy in order to design prevention strategy and precision treatment of cancer patients while minimizing debilitating cardiovascular complications. Methods: compare data on genetic, co morbid risk factors, and anticancer agents used in association with cardiovascular complications after cancer therapy. Expected outcomes: This study will provide... more »

Aim 1. Pharmacoepidemiology. Among people with epilepsy subtypes, what are the most commonly used medications?

Aim 2. Comparative Effectiveness. For each epilepsy subtype, which medication works best?

Aim 3. Pharmacogenetics. Within epilepsy subtypes, what genetic markers predict response to treatment?

(Epilepsy subtypes might include new onset focal epilepsy, new onset generalized epilepsy, Dravet syndrome, Doose... more »

Medicare penalizes hospitals that must readmit patients within 30 days. To what extent are those treatment failures linked to a failure to personalize medications and dosages? Metabolism and weight changes make the elderly more sensitive to dose variation. CYP phenotyping could be requested or incentivized as part of the readmission.