Genetic research is becoming more popular and currently is a major part of treatment due to its significant benefits for both adults and children. For adults, practitioners often attribute side effects to factors like drug interactions or substance abuse, but relying on adults to manage their health isn’t always effective leading to an increase risk of harm and complications. Therefore, the stakes are higher for children, who process medications differently and sometimes have to deal with more risks since most treatments aren’t FDA-approved.
Another important note with gene testing is even if you covered all your bases and took extra precautions some risks are simply unknown without gene testing (see the table above). Overall across all ages, consequences can have life-long ramifications, especially in mental health, which is why gene testing should be standard.
Why Providers Should Still Consider It?
- Starting low doesn’t eliminate all risks: While starting medications at a low dose may reduce some risks, it does not prevent severe allergic reactions or adverse effects, which can occur even with minimal exposure.
- Gene testing could improve treatment outcomes: Although many individuals manage well without genetic testing, those with a history of unsuccessful medication trials or severe side effects might benefit from gene testing, which could guide more effective treatment regimens.
- Gene testing might prevent future complications: Even for stable patients, certain medications can cause serious side effects (e.g., low WBC, metabolic syndrome). Genetic testing can help preemptively identify risks and guide safer medication choices. Read about the problems with side effects vs adverse reactions.
What Gene Testing Can’t Do?
1. Does Not Dictate Medication Choices
– Gene testing indicates how well certain enzymes or pathways metabolize substances, not which medications to take.
– The body has multiple processes for breaking down substances, so reports focus on dosing adjustments and side effect susceptibility for poor metabolizers.
– FDA warnings highlight the limitations of prescribing medications solely based on genetic reports, emphasizing the need for comprehensive decision-making.
2. Does Not Undermine Patient Experience
– If a patient is responding well to a medication flagged as problematic in a genetic report, treatment should generally continue.
– Genetic testing can help identify potential culprits for side effects or complications, enabling better-informed medication changes if needed.
3. Does Not Erase Symptoms or Cure Conditions
– Gene testing is not a solution but a tool to understand how the body processes medication, aiding in minimizing side effects and adjusting treatment.
– Misunderstandings (e.g., expecting a perfect match medication) can lead to placebo effects or disappointment.
– It is useful for honest discussions about prognosis and treatment adjustments.
Gene testing is best viewed as a metabolism report, helping refine treatment plans but not as a definitive guide to medication choices. In conclusion, it helps to be more transparent about a person’s prognosis and treatment, reducing the risk of complications.
Welp, this subject will be getting longer so I would add the little science part later. I thought to add some humor from The Oatmeal to lighten the mood.
I’ve already discussed the importance of the Cytochrome P450 now I’ll just briefly touch on the importance of genetics:
The Basics of DNA
A chromosome is where genetic information (the genome) of a cell is organized, stored, and retrieve or the DNA (deoxyribonucleic acid) molecule of an organism. Humans have 46 single chromosomes, 23 paired (one set from each parent). The DNA in a cell is not a single long molecule. It is divided into a number of segments of uneven lengths. At certain points in the life cycle of a cell, those segments can be tightly packed bundles known as chromosomes. During one stage, the chromosomes appear to be X-shaped.
Every fungus, plant, and animal has a set number of chromosomes. For example, humans have 46 chromosomes (23 pairs), rice plants have 24 chromosomes, and dogs have 78 chromosomes.
A gene is a segment of DNA that provides the cell with instructions for making a specific protein, which then carries out a particular function in your body. Nearly all humans have the same genes arranged in roughly the same order and more than 99.9% of your DNA sequence is identical to any other human.
Still, we are different. On average, a human gene will have 1-3 letters that differ from person to person. These differences are enough to change the shape and function of a protein, how much protein is made when it’s made, or where it’s made. They affect the color of your eyes, hair, and skin. More importantly, variations in your genome also influence your risk of developing diseases and your responses to medications.
More Love About DNA
To put it nicely, the human genome has about 20,000-25,000 “coded” genes and between 2 humans, we share about 99% of the genetic materials. The problem? Mutations. These mutations can occur at birth or are technically noticed whenever and for many different reasons. There’s really no cure or treatment, it may not even be a problem, but mutations can cause the body to have diseases, conditions, adverse reactions…etc. So with regards to medications, there can be good and bad outcomes because it’s not a ONE size fit all situation. Now we have some science to prove it or at least improve the treatment. I also like this analogy:
If the genome were a book, every person’s book would contain the same paragraphs and chapters, arranged in the same order. Each book would tell more or less the same story. But my book might contain a typo on page 303 that yours lacks, and your book might use a British spelling on page 135—”colour”—where mine uses the American spelling—”color.”
DNA is not your destiny. The way you live influences how your genome works.
Back to Gene Testing
Genetic testing is paving the way for future advancements in healthcare. A colleague’s experience with using a gene test to select a blood pressure medication highlights its potential beyond traditional uses. As genetics and DNA science continue to evolve, there’s excitement about its possibilities, such as personalized consultations for patients who have struggled with standard treatments. The hope is that more people will embrace this promising field. For more information about gene testing also check out these additional websites:
- Mayo Clinic: have some great simple information for patients and clinicians
- The Carlat Report suggested the research may be minimal but it can still provide hope: If we were to hold the GeneSight test to the usual standards we require for making medication decisions, we’d conclude that there’s very little reliable evidence that it works. On the other hand, some of you will probably want to try it out, especially for those patients who have insurance that will cover the cost of the test. If you do order it, reserve it for patients who are most likely to benefit, including patients who have failed to respond to multiple medications (which could be caused by ultra-rapid metabolism, causing drug levels to be too low), and patients who have had lots of side effects (potentially caused by slow metabolism, causing drug levels to be too high).
- Use of combinatorial pharmacogenomic testing in two cases from community psychiatry by Research Gate
- A Typical GeneSite Report and Educational Resources by GeneSite
Additional Sources & References
- DNA Tests For Psychiatric Drugs Are Controversial But Some Insurers Are Covering Them by NPR
- The FDA Warning Against the Use of Many Genetic Tests with Unapproved Claims to Predict Patient Response to Specific Medications: FDA Safety Communication
- Improving the Treatment of Depression
