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Supportive Studies: Genetics
Pharmacogenetics is the study of how genes affect a person’s response to drugs. This field combines pharmacology (the science of drugs) and genetics (the study of genes and their functions) with the goal of making medications safer and more effective by tailoring medications based on a person’s genetic makeup (www.pharmgkb.org).
Gene tests are used in pharmacogenetics. Over time, scientists are discovering which of these gene tests are so important that they should move from the research lab into the patient’s medical record, where they would be available to the doctors and other care givers to see the test results, and to use the information when they give the patient the drug.
The process for deciding which tests to move from the research lab into the patient medical record is not well defined. Right now, genetic tests are not being used as much as they could be to help decide which drugs and doses are right for the patient. This study will help us set up processes so we can choose which of the gene tests are important enough to be put in patient medical record. This study will see how doctors, patients, and their families accept the process.
Protocol investigators and family members of patients from St. Jude’s Family Advisory Council discuss pharmacogenetics research in this educational video.
Accepted for treatment for active disease as a St. Jude patient, evidenced by matriculation with a St. Jude medical record number, and with the St. Jude medical record as the primary medical record for the patient
Priority genes are those whose variants are so closely linked to medication effects that they meet our criteria for being moved from the research laboratory into the patient medical record. Once the gene results are in the medical record, they can then be used by doctors, pharmacists, nurses, and other clinicians to make decisions about drug therapy.
There may be hundreds or thousands of different gene variations that are important to drug use. One of the primary goals of the PG4KDS study is to decide which of these variations should actually be used for care of patients; we will work on the process of taking information that we learn from research and use it to make medications more effective and safer in patients.
As knowledge advances, new genes (and the medications they affect) will be added to our priority list. This process will be deliberate: gene-by-gene and drug-by-drug. As new priority genes are implemented, it will be our goal to keep the St. Jude patients and families well-informed on what that knowledge will mean for them.
For every gene, every person inherits one copy of the gene from their mother and one from their father; the combination of the two copies of each gene is called the “genotype” (or diplotype) for that gene. In PG4KDS, “priority genotypes” are linked in the medical record with special alerts, so that medications affected by the gene will be matched to the genotype information.
Read a brief description of each priority gene that is currently being used to make drug therapy decisions for patients on the St. Jude PG4KDS study.
Mary Relling, PharmD
The above information is intended to provide only a basic description about a research protocol that may be currently active at St. Jude. The details made available here may not be the most up-to-date information on protocols used by St. Jude. To receive full details about a protocol and its status and or use at St. Jude, a physician must contact St. Jude directly.