Is genetic testing the new paradigm in treating addiction?

In the past, diseases like cystic fibrosis, sickle cell anemia and others were referred to as birth defects because they are expressed at birth. Genetic testing now offers a way to identify them and confirm diagnoses early.

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When diagnosing genetic illness and deciding on an appropriate treatment plan for a patient, physicians rely largely on educated guesswork. After that, it takes trial and error to determine whether the treatment works. But with advances in genetic testing, much of the guesswork can be eliminated and replaced with scientific certainty.

Genetics already help medical professionals in a few different ways, like identifying single nucleotide polymorphisms (SNPs) that lead to genetic conditions. Testing can also help us more successfully treat illnesses that are caused by the interaction of two or more polymorphic genes.

Conditions like cystic fibrosis, sickle cell anemia, and Duchenne muscular dystrophy, among many others, are caused by different changes within a single gene. In the past, these diseases were referred to as birth defects because they are expressed at birth. Genetic testing now offers a way to identify them and confirm diagnoses early.

Other illnesses that result from a single genetic mutation, like Huntington’s disease and amyotrophic lateral sclerosis, are more complex and can present at any point in the life cycle. Such illnesses are difficult to diagnose early in their course because other factors can at first buffer the mutation’s effects. Genetic testing is used to clarify diagnoses of these disorders and better tailor each patient’s treatment.

Many genetic conditions, however, involve the interaction of two or more genes, resulting in a much more complicated puzzle to solve. In these cases, genetic testing is used more for treatment than identification.

There are various genes and biological pathways that impact each individual’s metabolic response to medication — knowing how these pathways interact and which genes have polymorphisms helps physicians more precisely aim treatment at complex diseases.

We still have much to learn about the human genome, but we are already putting what we do know to good use. Two prominent examples of current genetic testing and research efforts include:

Pharmacogenomics and the pharmacokinetics of medications.

Pharmacogenomics explores why patients with identical illnesses respond differently to the same medication. Different SNPs can dictate how a patient’s body breaks down medication (pharmacokinetics). Genetic testing can help match patients with the best treatment, improving their outcomes with individualized medication. In a nationwide prospective study, hospitalization rates were reduced by 30 percent through the use of pharmacogenomics testing.

A simple saliva test can tell a physician how a patient’s genetic code breaks down and metabolizes medication. This helps a physician know beforehand how a patient will react to a certain medication, what dose will be most effective, and the potential for toxicity.

Sequencing medical treatment for addiction.

Two people of the same age, gender, socioeconomic status, and marital status may also share an addiction to alcohol, but the underlying genetic reason for their addictions may be different. One patient may have a polymorphism that inhibits dopamine release, so he drinks for alcohol’s dopamine-releasing powers. The other may have a different polymorphism that dampens his dopamine receptors and causes increased dopamine spikes, so he drinks to raise dopamine tone a different way.

Each patient requires personalized treatment to address his unique genetic issues. Some treatment centers, for example, strive to improve the quality of addiction treatment and recovery using known polymorphisms in the neurobiology of dopamine tone. This helps sequence medical treatment in addiction so patients can experience far better outcomes from medications that are tailored to their genetic needs.

The benefits of genetic testing are many. Besides more accurate diagnoses and more precise treatment, genetic testing can predict increased risks of developing disease later in life. We can also recognize gene changes that might be passed on to children, as well as screen them for conditions that should be treated as early as possible.

With recent shifts driving healthcare toward high-quality, evidence-based treatment, genetic testing is becoming exponentially more important. Before long, genetics and pharmacogenetics will be so ubiquitous that medicine without them won’t make sense.

Photo: Bigstock


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Howard Wetsman, MD

Dr. Howard Wetsman is an addiction medicine physician and psychiatrist living in New Orleans. He is the chief medical officer of Townsend Treatment Center in Louisiana and is a member of the board of the American Society of Addiction Medicine.

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