Genetic Testing: Pharmacogenetics and Benefits for Neurodivergents
- May 14
- 9 min read
Enhance your Holistic Health and Wellness through genetic testing and pharmacogenetics for precision nutrition, wellness and medication recommendations based on your unique DNA. Knowledge is Power! Be Empowered.
Genetic Testing and Pharmacogenetics in South Africa provides numerous advantages for neurodivergent children and adults, especially those with neurodevelopmental conditions like Autism (ASD) and ADHD, empowering you with valuable knowledge to make informed decisions in the areas of medication management, diet and nutrition, and overall holistic health and wellness.
By tailoring treatment interventions to an individual's specific genetic profile, it aids in selecting the most effective medication and dosage, enhancing drug efficacy and minimizing the likelihood of adverse effects. This diagnostic tool is particularly beneficial for children or adults with neurodevelopmental conditions like Autism and ADHD, who frequently need medication for additional co-occurring conditions such as anxiety or mood disorders and may exhibit varied responses or sensitivities to treatments.
Neurodivergents often have issues with their diet and food like restricted eating, ARFID, etc. due to sensory differences or food sensitivities/ allergies and this can be very challenging to manage; as well as a variety of neuro-differences that can cause barriers to their overall functioning, health and wellness.
What is Pharmacogenetics (Pharmacogenomics)
Pharmacogenetics Definition: the science concerned with understanding how genetic differences among individuals cause varied responses to the same drug and with developing drug therapies to compensate for these differences. - Merriam-Webster
“Pharmacogenomics,” (also referred to as pharmacogenetics) is a relatively new field, which studies how a patient’s genes influence drug therapy response. Clinical pharmacogenomics testing has evolved from benchwork to direct patient care testing.
This involves gene testing to understand a patient’s genetic makeup permits tailoring the choice of medication therapy and/or dosing to an individual’s determined drug metabolism. The patients will benefit through having fewer side effects and lower drug-related costs as a result of shorter hospital stays, reduced medical visits, and reduced medical absence days.
Genetic variations are increasingly recognized as crucial factors influencing differences in treatment responses, ideal dosage, and drug tolerability. For instance, an ultrarapid metabolizer phenotype for a specific medication may lead to therapeutic ineffectiveness, while a poor metabolizer phenotype can raise the risk of toxicity.
What are the Benefits of Genetic Testing and Pharmacogenetics for Neurodivergents
Personalized Treatment:
By analyzing an individual's genetic makeup, pharmacogenetic testing can help determine which medications are likely to be most effective and which ones might be less safe or effective. It will empower you and your healthcare providers to make informed decisions about medication, diet and nutrition, and your unique genetic wellness factors.
Children or adults with fast-metabolizing variants may clear medications too quickly, requiring a higher or more frequent dose, while slow metabolizers may experience side effects or toxicity at standard dosages.
Genetic testing assessing common polymorphisms affecting selective serotonin reuptake inhibitors (SSRIs) metabolism may provide guidance to prescribers about individual drug metabolizing patterns for specific psychotropic medications.
Reduced Risk of Adverse Reactions:
Identifying potential drug interactions and individual sensitivities can help doctors avoid prescribing medications that could cause harm. This approach can help avoid the trial-and-error process of trying different medications and dosages, which can be particularly challenging for neurodivergent individuals with Autism and ADHD with complex neuro-differences and reactions to medication.
This can avoid the risk of harmful interactions between psychiatric medications or side effects like serotonin toxicity and Serotonin Syndrome.
Improved Medication Efficacy:
Personalized treatment based on genetic information can increase the likelihood of achieving therapeutic benefits and improve overall outcomes.
Optimized Dosage & Drug Metabolism
Genetic testing can help determine the optimal dosage of medication for an individual, minimizing the risk of adverse effects and maximizing therapeutic benefit.
Wellness
It provides important health insights into your health condition and vulnerability to chronic diseases like diabetes, hypertension, bone health, caffeine metabolism, blood clotting, cancer risks, dementia, heart disease, stress, mood disorders, and more.
There is, therefore, precedence in pediatric care for pharmacogenomic testing in high-risk populations. While pharmacogenomic testing must be carefully researched and monitored prior to broad generalization to general adolescent populations, implementing pharmacogenomic testing in adolescents with autism on one or more psychotropic medications may be warranted because of their high-risk profile.
Diet, Nutrition and Supplements
It can assist you in attaining optimal health through precision nutrition. By examining your genetic profile, you gain valuable insights that allow for the customization of your diet, healthy food choices, nutrition and supplements, helping you effectively achieve your weight management objectives.
Improved Quality of Life:
By customizing treatment based on a person's genetic profile, genetic testing and pharmacogenetics can enhance the quality of life for neurodivergent individuals with Autism and ADHD. It will provide certainty based on your unique genetic profile in an area where we are often overwhelmed by too much uncertainty, and where the traditional trial and error method may take years to work, if at all, and where neurodivergent families struggle for years to find an outcome that is helpful and effective.
How it works:
A sample of saliva, blood, or cheek cells is collected for genetic analysis and send to a lab to be analyzed.
The results can then be used to empower and guide you in different areas:
Medication selection and Dosage adjustments;
Diet, Nutrition, Food sensitivities, Detox pathways, Inflammation risk and Supplements;
Wellness and Health status and susceptibility to chronic diseases;
Exercise tolerance and energy metabolism.
A Genetic Counselor may assist you in interpreting and applying your results.
You can also get access to your own genetic results in the form of a report or an app. You can then take this to your healthcare provider, e.g. your GP, Pediatrician, Dietician, and Wellness Counselor to make informed choices about your treatment.
Genetic Testing and Pharmacogenetics Availability in South Africa
Here are trustworthy local providers that offer genetic testing and pharmacogenetics:
IntelliGENE: https://intelligene.health/
DNA Test + Pharmaco Report | R4950.00
DNA Test + Sport Report | R4950.00
DNA Test + Wellness Report | R4950.00
DNA Test + Diet Report | R4950.00
* You can access the results directly via the reports and their Data Vault App which is a great tool to easily access your personalized data. It is a once off DNA test and then you can add various reports as needed.
* List of medications covered in the Pharmacogenetics Test.
* They are based in Pretoria.
DNAlysis: https://dnalysis.co.za/
Various Nutritional Genetics Tests
Methalation Testing
Medication Screening | R3600
* You can access your results through a feedback consultation with an accredited healthcare practitioner.
* List of medications included in the Pharmacogenetics Test.
* Your DNA report will be ready 21 days from the time your sample reaches the laboratory, excluding the MyDNAOrigin report which will take 6-8 weeks.
* They are based in Johannesburg.
Gene Sense (3x4 Genetics): https://www.genesense.co.za/
3x4 Genetics Test Kit | R4750
Feedback Report and Session | R2750
* Dr. Lindie Schloms PhD, she is based in Stellenbosch. 3x4 Genetics is based in the US.
* See sample of her report.
Geneway: https://geneway.co.za/
Gene-Well | R3910
Gene-Diet | R3500
Gene-Sport | R3500
Optiway Food Sensitivity Test | R4500
various other genetic tests
* You need to contact a Geneway Practitioner who will interpret and discuss your results with you.
* They also offer training courses through Life 360 Academy and Supplements.
* They are based in Pretoria.
BioCertica: https://biocertica.com/
Pharmacogenetics Test | R3099
Nutrition and Well-being Test | R1699
Weight Management Test | R1699
various other genetic tests
* You can access your results through booking a consultation with a BioCertica qualified Practitioner and through their app.
* They are based in Paarl and use the lab facilitates of the University of Stellenbosch.
GENEdiagnostics: https://genediagnostics.co.za/
Pharmacogenetic Test | R2900
Methylation Gene Screen | R2645
Whole Exome Sequencing | R13 135
Various other genetic tests
* They are based in Cape Town. They partnered with some Clicks Pharmacies.
Autistic Teens may have Complex Mental Health Issues
Data from the Center for Disease Control and Prevention in 2012 estimate 1 in 68 children have been diagnosed with Autism. Comparing to typical adolescents, young autistic patients have more complex mental health concerns and frequently suffer from co-occurring psychiatric disorders such as anxiety, attention deficit hyperactivity disorder, and obsessive compulsive disorder.
Agitation, self-injury, and temper outbursts are often manifestations of anxiety in patients with autism who have difficulty verbally describing their symptoms.
A practice parameter published in the Journal of the American Academy of Child and Adolescent Psychiatry suggests that pharmacotherapy may be offered to children with ASD when there is a specific target symptom or comorbid condition.
While adolescents without autism often have a hard time expressing psychiatric symptoms, autistic adolescents may face behavioral and verbal challenges that make it even more difficult to describe symptoms. Adolescents with autism may also have difficulty expressing experienced medication side effects.
Complicated Pharmacotherapy & Polypharmacy
Almost 1 in 10 patients aged 10–19 years are on some psychotropic medication. Patients with ASD are commonly diagnosed with anxiety and refractory depression.
SSRIs are first line pharmacotherapy for patients with uncontrolled symptoms after behavioral interventions alone. Along with behavioral therapy, SSRIs have been indicated to reduce repetitive behavior among patients with ASD.
However, only half of pediatric patients with depression or anxiety who are prescribed a single SSRI have full remission of symptoms after 6 months. In comparison, only one third of pediatric patients with autism who have anxiety have remission of symptoms with a single SSRI at 6 months.
The remainder of patients either cycle through numerous psychotropic medications due to side effects or are classified as having SSRI failure. The side effect profile of SSRIs (such as increased nervousness) may exacerbate anxiety and depression symptoms.
Autistic patients are more likely to be on psychotropic therapy for depression or other mental health conditions. At the same time, they are less equipped to express potential side effects of medications or have full remission of symptoms with medication.
This results in a higher risk of polypharmacy. Autistic adolescents have higher prevalence of psychotropic use. Analysis of a national registry reviewing children with ASD indicated that >35% of this patient population use at least one psychotropic medication, and ~10% use psychotropic medications in ≥3 major classes concurrently.
Antipsychotics, stimulants, anticonvulsants, and antidepressants are often prescribed in combination for symptom control in these patients at much higher rates than the general population. Over the past two decades, these psychotropic medications are increasingly being prescribed to children and adolescents with ASD, making polypharmacy among these patients a concerning issue.
Teens with ASD are more likely to be on an atypical antipsychotic than those without autism. These medications are often prescribed to manage symptoms related to resistant depression and anxiety, as well as behavioral problems in this population. As superior efficacy of combination therapy has been demonstrated among pediatric patients in past clinical studies, pharmacological interventions are often added on top of behavioral therapy to help patients improve their daily function.
Guidelines for adolescent depression in primary care suggest that treatment with antidepressants or psychotherapy such as CBT should be offered to adolescent patients with depression. According to a 2011 report published by the Agency for Healthcare Research and Quality, 90% of children taking antipsychotic medications would receive an atypical antipsychotic for mostly off-label indications. However, limited clinical data evaluating acute and long-term risks place these adolescents at a greater chance of undertreatment or overtreatment, in addition to long-term side effects.
While regulatory approval for new indications depends on large randomized controlled clinical trials, studies in adolescents with autism have been limited in size and scope. Other factors that intensify polypharmacy in this patient population include adolescence, handicap, and group home environment.
Because it may be very challenging for patients with ASD to express anxiety symptoms resulting intrinsically or from medication, a vicious cycle of chasing behavioral symptoms (unknowingly resulting from medication side effects) further exacerbates psychotropic polypharmacy. With psychotropic medication’s profound side effect profile (such as sedation, weight gain, metabolic disorders, hyperprolactinemia, movement disorders, and QTc prolongation), it is imperative to maintain doses as low as possible while optimizing therapy for the best outcome.
Conclusion
Autistic children, teens and adults often suffer from co-occurring psychiatric disorders that may be more challenging to manage.
They are frequently treated with complex drug regimens and are at increased risk of undertreatment and overtreatment, side effects, and polypharmacy. Although primary care providers are at the front lines of autistic support and management, they are often overwhelmed and lack the right tools to better care for these patients.
Through aiding in drug selection and dose optimization, pharmacogenomic testing may be extremely beneficial in aiding better management of autistic people and avoiding the traditional "trial and error" method of finding the right medication and dosage to support neuro-differences, co-occurring psychiatric conditions and overall health and wellness.
Sourced from
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