What is Genomic Medicine?
Andrius Baskys, MD, PhD
Genetic data-guided diagnosis and treatment are often referred to as Genomic or Precision Medicine. Genomic Medicine is based on the knowledge of the Human Genome. Genomic information is obtained using Next Generation Sequencing of a patient’s DNA. This technology allows to diagnose diseases and develop treatment, monitoring and prevention strategies that are individually tailored to the patient’s genetic profile. Confirmation of the molecular genetic cause may have significant treatment and management implications, as well as eligibility for needed services.
Diagnostic and treatment decisions are based on a comprehensive neuropsychiatric, neurological and medical examination followed by Next Generation DNA sequencing (NGS)
Psychiatric, neurological, gastrointestinal and other relevant comorbidities are identified
Next Generation DNA sequencing and pathogenic variant discovery establishes causality and informs diagnostic decisions
All clinical data, genetic data, pharmacogenetic data are analyzed for actionable pharmacological, nutritional and surveillance targets
We connect patients to specialists for follow up, surveillance and genetic counselling on the basis of target discovery
Advantages of genomic medicine
- May indicate the most effective treatment
- May establish or change medical follow-up (surveillance)
- Helps avoid additional tests
- Provides estimate of disease severity and recurrence risk
- Assists with life/family/financial planning
- Puts an end to patient’s health care odyssey
It has been well established that over 30 million people in the US have an undiagnosed or rare disease. It is also known that about 85% of such diseases have a genetic basis. Genomic Medicine technologies enable physicians to make an accurate diagnosis in 20-40% of cases of undiagnosed disease, which is significantly more than 1-5% using standard procedures. Listed below are several general indications for using genomic medicine approaches:
- Autism (ASD issues from non-verbal autism to Asperger’s)
- Intellectual Disability, seizures
- ADHD, anxiety, depression, eczema, sensory issues, gut issues such as IBS, reflux, diarrhea, constipation and leaky gut etc.
- Complex conditions involving multiple organ systems
- Persistent symptoms and no working diagnosis despite numerous specialist consultations
- Disease runs in the family or unknown family history
- Medications ineffective or cause significant side effects
Next Generation DNA sequencing provides information about individual variations in drug responses and metabolism. Using this information for medication selection significantly shortens drug response times, minimizes side effects and achieves better treatment results.
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