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🧬 How we review genetic test results

Thanks for sharing your results. This guide explains what we do with genetic reports (consumer and clinical), how we interpret them, and what happens next.

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āœ… Quick answer

  • We welcome both consumer (MyNucleus, 23andMe, Ancestry and more) and clinical panels (Invitae, Ambry, GeneDx, OneOme, and more).

  • Our genetics counselors and data experts review your raw DNA (ATGC) and contrast it with the latest scientific research. Then our counselor and physican synthesize your results in the context of your story, labs, imaging, and goals.

  • For pharmacogenomics (PGx)—how genes influence medication response—we reference established clinical guidelines and knowledge bases.


You can only prevent what you know.


šŸ“„ What to send (and how)

  • Best format: the hidden raw DNA file (ZIP/VCF) from your testing company.

  • Optional: PDF reports—we note it to compare, but we prioritize the raw DNA for direct analysis and care discussions.

  • You may either email or upload to chat (see Fin (our mascot) on the bottom-right of your screen --> chat window). Both are HIPAA-secure.

    If you email files from the address on your account, they auto-upload to your chart; otherwise we add them during review—no need to resend.


šŸ”Ž What we look for

  1. High-impact, actionable variants

    • Examples include the CDC’s ā€œTier 1ā€ conditions:
      ​BRCA1/2 (hereditary breast/ovarian cancer), Lynch syndrome (MMR genes), and familial hypercholesterolemia (FH). These have clear prevention/treatment pathways when confirmed.

  2. Pharmacogenomics (PGx)

    • Gene–drug pairs with dosing or selection guidance (CYP2D6/CYP2C19, SLCO1B1, DPYD) based on CPIC guidelines and curated databases. We’ll consider this alongside your diagnoses and current meds.

  3. Carrier status

    • Useful for family planning and uncovering inherited risks; consumer results may require clinical confirmation before decisions.

  4. Polygenic risk scores (PRS)

    • PRS provides contextual risk; both methods and clinical utility are evolving; we interpret cautiously and always in clinical context.


Did you know? Context matters more than anything. Everything you share is interpreted in the lens of your story. If influences how we support you and the tools we bring to you. The more you share, the more impact we have as a team.


🧭 How we interpret your report (our framework)

  1. Verify scope & quality of the test (limitations, genes copered, consumer v clinical). The FDA authorizes only some DTC health-risk/carrier reports; many others aren’t authorized.

  2. Cross-reference findings with trusted resources (CPIC for PGx; ClinPGx/PharmGKB for evidence summaries).

  3. Contextualize with your history, labs, family history, and goals.

  4. Decide next steps: imaging or additional labs to evaluate risk, lifestyle changes, medication adjustments, immediate act on high-impact variants.


🧪 When we recommend confirmatory testing

  • Any pathogenic/likely pathogenic variant tied to Tier 1 conditions (BRCA1/2, Lynch, FH).

  • Discordant or uncertain results, or when a consumer report suggests medication changes.

  • When results could change screening, treatment, or family planning.


šŸ’Š How genetics may change care (examples)

  • Medications (PGx): If your genotype suggests altered metabolism or higher side-effect risk for a medication, we may choose a different drug or dose per CPIC guidance—balanced with your clinical picture.

  • Cancer risk (BRCA/Lynch): If confirmed, we’ll coordinate genetics referral and update screening plans.

  • Heart disease (FH): If confirmed, we’ll order additional imaging and testing, and target aggressive ApoB and Lp(a) reduction and family cascade testing.


šŸ” Privacy notes (FYI)

  • Consumer genetic services are generally not covered by HIPAA in the same way as clinical healthcare services. If you used a DTC company, review their account settings to manage data retention/sharing. Recent state AG alerts have reminded consumers how to delete data or destroy stored samples (after you save a copy for yourself).


ā±ļø What to expect after you send results

  • We’ll confirm receipt.

  • We attach your files to your chart and review them.

  • If something is unclear or needs confirmation, we’ll message you with options.

  • We’ll discuss key takeaways, celebrate the good news, and dive into your personalized risk reduction strategy next steps over video for 60-90 minutes (and include them in your After-Visit Summary).


šŸ™‹ā€ā™€ļø FAQs

Can you help me decide which test to order?
Yes—message us with your goals (prevention, performance, body composition, medication response, cancer risk, family planning), and we’ll outline options and trade-offs.

Do you analyze raw data (VCF)?
We prioritize the raw data over the vendor report for care decisions.

Will you change my medication based on 23andMe alone?
No. For PGx-driven changes, we align with clinical guidelines, your full clinical picture, and your personal experiences, and may confirm in a clinical lab first.

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