Proton Pump Inhibitors (PPIs) — such as Prilosec, Protonix and Nexium, have long been one of the most prescribed medications to aid in the reduction of stomach acid.
The use of these medicines among children is on the rise and so are potential side effects, which is sparking concern according to a recent study conducted in USA “CYP2C19 Phenotype and Risk of Proton Pump Inhibitor-Associated Infections,” a retrospective, biorepository, cohort study.
Since these medications are available over the counter for adults, they are thought to be a safe option for children. These medicines are seen as very low risk with few downsides but study says otherwise.
According to researchers, there is a specific enzyme in the body, CYP2C19, that helps break down these medications. The enzyme works differently in each person – from slow, normal, fast and sometimes not at all — impacting the ability of the medication to be safely metabolized. Because CYP2C19 inactivates PPIs, genetic variants that decrease the enzyme’s function may increase the medicine levels in the body leading to more infection events. Stomach acid naturally protects the body from dangerous organisms that can be found in water and food. Reducing stomach acid may increase an infant’s risk of these kinds of infections.
The fact that children who have been characterized as normal CYP2C19 metabolizers actually had more infection events than the fast metabolizers tells us that being exposed to these drug levels actually puts the child at risk for having an extra infection event.
It is suggested that clinicians to consider doing a genetic test to identify if a patient is a slow, normal or fast metabolizer. Genetic testing can be a useful tool to determine if a patient requires a lower or higher dose of the drug (precision medicine) which can reduce side effects in children and save children from dangerous infections.
Brief about precision medicine and genetic testing:
Precision medicine is “an emerging approach for disease treatment and prevention that takes into account individual variability in genes, environment, and lifestyle for each person.” This approach will allow doctors and researchers to predict more accurately which treatment and prevention strategies for a particular disease will work in which groups of people. It is in contrast to a one-size-fits-all approach, in which disease treatment and prevention strategies are developed for the average person, with less consideration for the differences between individuals
One of precision medicine practices include genetic testing.
Genetic testing involves examining your DNA, the chemical database that carries instructions for your body’s functions. Genetic testing can reveal changes or alterations in your genes that may cause illness or disease.
Types of genetic testing:
1. Diagnostic testing. If you have symptoms of a disease that may be caused by genetic alterations, genetic testing can reveal if you have the suspected disorder. Examples of disorders for which genetic testing may be used to confirm a diagnosis include adult polycystic kidney disease, iron overload (hemochromatosis) and Charcot-Marie-Tooth disease.
2. Presymptomatic and predictive testing. If you have a family history of a genetic condition, undergoing genetic testing before you have symptoms may show if you’re at risk of developing that condition.
3. Carrier testing. If you have a family history of a genetic disorder — such as sickle cell anemia or cystic fibrosis — or you are in an ethnic group that has a high risk of a particular genetic disorder, you may choose to have genetic testing before you have children. An expanded carrier screening test can detect genes associated with a wide variety of genetic diseases and mutations.
4. Pharmacogenetics. If you have a particular health condition or disease, this type of genetic testing may help determine what medication and dosage will be most effective and beneficial for you.
5. Prenatal testing. If you are pregnant, tests are available that can detect some types of abnormalities in your baby’s genes. Down syndrome and trisomy 18 are two genetic disorders that are often screened for as part of prenatal genetic testing.
6. Newborn screening. This is the most common type of genetic testing. In the United States, all states require that newborns be tested for certain gene abnormalities that cause specific conditions. This type of genetic testing is important because if results show there’s a disorder such as congenital hypothyroidism or phenylketonuria (PKU), care and treatment can begin right away.
7. Preimplantation testing. Also called preimplantation genetic diagnosis, this test may be used when you attempt to conceive a child through in vitro fertilization. With in vitro fertilization, eggs are removed from a woman and sperm are collected from a man. The eggs are then fertilized with the sperm outside the body to create embryos. The embryos are then screened for genetic abnormalities. Embryos without abnormalities are implanted in the uterus in hopes of achieving pregnancy.
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