Clinical Genomics: How Your DNA Guides Personalized Healthcare

Clinical genomics uses advanced DNA sequencing technologies to guide the diagnosis, prognosis, and treatment of medical conditions. By analyzing your genetic makeup, clinicians can discover inherited risks, diagnose rare genetic disorders, predict how you’ll respond to specific medications, and provide targeted, personalized healthcare strategies.

As genomic testing becomes more affordable and accessible, it’s increasingly integrated into routine medical practice, empowering patients and clinicians to make informed health decisions.

Clinical Genomics Workflow

1. Patient Sample Collection:
   • We collect a DNA sample, typically through a simple blood draw or saliva sample.
2. Next-Generation Sequencing (NGS):
   • Your DNA is sequenced using high-accuracy, high-depth (100×) sequencing platforms in a CLIA-certified laboratory located in the continental US.
3. Raw Data Generation (FASTQ Files):
   • This process produces raw sequencing data containing nucleotide sequences and their quality scores.
4. Read Alignment to Reference Genome (BAM Files):
   • Sequencing reads are aligned to a reference human genome to accurately pinpoint each genetic variant.
5. Variant Identification (VCF Files):
   • We identify differences between your genome and the reference, creating a comprehensive list of genetic variants.
6. Variant Annotation:
   • Each identified genetic variant is annotated using clinical databases such as ClinVar, GnomAD, and dbSNP to determine potential medical significance.
7. Variant Filtering and Clinical Interpretation:
   • Genomics-trained physicians filter and interpret variants, highlighting those with significant clinical implications, such as disease-causing mutations or medication interactions.
8. Medical Report Generation:
   • A detailed, personalized medical report is created, describing significant findings, health implications, pharmacogenetic insights, and recommended next steps.
9. Clinical Consultation and Recommendations:
   • We offer personalized consultations with genomics-trained physicians to discuss your results. These consultations help turn your genomic insights into actionable medical strategies, including specific treatment recommendations, referrals to specialists, and tailored nutritional plans.
10. Results Delivered and Actionable Next Steps:
    • Finally, you receive your comprehensive report and clear guidance for integrating these insights into your healthcare strategy.

The diagram below illustrates each step in the process, from DNA collection to clinical insight:

Take the first step toward personalized care. To schedule a free phone consultation, call 909-865-2565.

Questions?

Genomics may be complex but it does not have to. Drop us a question and we will post the answer to Frequently Asked Questions page. No registration required. We are here to help!