Genomic Data Analysis and Interpretation
You’ve got your DNA data; now what?
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 and it is oftentimes referred to as “Genetic testing”.
Genetic testing is performed to detect changes or variants in DNA. Pathogenic variants are variants associated with disease, while benign variants are not. The majority of genetic changes have unknown effects on human health, and these are referred to as variants of uncertain significance or VUS.
Our service is intended for individuals or their health care providers seeking to find pathogenic variants in genes associated with a disease or symptom. Our service enables healthcare providers to diagnose diseases and develop treatment, monitoring and prevention strategies tailored to the patient’s genetic profile.
Our Approach to Variant Discovery
MoodNote genomics trained staff use sophisticated bioinformatic tools and complex algorithms to discover pathogenic or likely pathogenic variants responsible for disease, and deliver this information to you in an easy to comprehend report.
Discovery of pathogenic variants represents a transformative approach to healthcare, where your unique genetic makeup guides decisions about your health management and even preventive care.
But it is not an easy task.
A human has about 22,000 genes, each of which may have up to 10,000 variants. Think about discovering a needle in the proverbial haystack! It is no wonder that many users of genomic data, including highly trained medical professionals, become easily overwhelmed by the abundance of data.
With over 30 million Americans affected by undiagnosed or rare diseases—85% of which have a genetic basis—genomic medicine technologies offer a groundbreaking advantage.
They enable accurate diagnoses in 20-60% of these elusive cases, a significant leap from the 0-5% success rate of standard clinical procedures. Genomic medicine is particularly beneficial for a wide array of conditions, including:
Spectrum disorders ranging from non-verbal autism to Asperger’s
Intellectual disabilities and seizures
ADHD, anxiety, depression, and skin, sensory, or digestive issues
Complex, multi-organ conditions
Unresolved symptoms despite extensive specialist consultations
Familial diseases or those with an unknown family history
Cases where medications are ineffective or cause severe side effects
This innovative approach is reshaping how physicians tackle these challenging health puzzles, providing hope and clarity for countless patients.
Our sophisticated algorithms identify organ systems enriched by pathogenic variants carrying genes. This approach allows the treating health care provider to immediately focus on the most affected system of the body.
Next Generation DNA sequencing and pathogenic variant discovery not only establishes causality for precise diagnostic decisions but also streamlines treatment pathways by indicating the most effective treatments, refining medical follow-up plans, and minimizing the need for additional tests. This approach offers insights into disease severity, recurrence risks, aids in comprehensive life, family, and financial planning, and conclusively addresses the patient’s healthcare journey.
Do you or does your patient have problems with medication side effects? Poor treatment response? Genomics can help!
Today, the comprehensive analysis of clinical, genetic, and pharmacogenetic data represents a truly transformative approach to patient care. This method involves the meticulous examination of an individual's health records, DNA information, and their body's specific reactions to various drugs. By doing so, healthcare providers can identify actionable pharmacological, nutritional, and surveillance targets that are custom-tailored to each patient's unique biological makeup.
Pharmacological targets are identified by understanding how an individual's genetic variations affect drug metabolism, efficacy, and risk of adverse reactions. This allows for the optimization of drug choice and dosage, minimizing harmful side effects while maximizing therapeutic efficacy.
Nutritional targets emerge from the analysis of genetic predispositions to certain nutritional deficiencies or how certain nutrients might impact health conditions. Personalized nutritional plans can then support disease prevention, management, and overall wellness.
Surveillance targets involve the early detection and ongoing monitoring of conditions for which a patient may be at increased genetic risk. By knowing these risks ahead of time, healthcare providers can implement preventive measures and closely monitor for early signs of disease, leading to timely interventions.
This comprehensive data analysis paves the way for a more proactive, preventive, and precise approach to healthcare, where treatments and recommendations are deeply personalized. It signifies a move away from the "one-size-fits-all" approach, offering patients interventions specifically designed for their genetic profile, lifestyle, and health status, thus enhancing the quality of care and improving health outcomes.
Our approach goes beyond merely identifying genetic predispositions or anomalies; we bridge the crucial gap between discovery and treatment by facilitating direct connections with specialists who offer targeted care.
Upon the identification of pathogenic disease causing variants, we engage in a thoughtful process of matching patients with experts in relevant fields. This may include follow-up care, ongoing surveillance to monitor for the development or progression of conditions, and genetic counseling to understand the implications of genetic findings.
Surveillance: For conditions with a genetic predisposition, early detection and monitoring can be life-saving. Our specialist referrals include professionals who are experienced in the surveillance of genetic conditions, equipped to recognize early signs and intervene promptly.
Genetic Counseling: Understanding the impact of genetic findings is crucial for patients and their families. Genetic counselors play a key role in interpreting complex genetic information, assessing risk factors, and supporting patients through decision-making processes regarding their health and family planning.
By integrating these specialized services, we ensure a holistic, informed, and proactive approach to healthcare, empowering patients with the knowledge and support they need to navigate their health journey confidently.
