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Telegenomics for the Modern Patient

Health genomics, explained with evidence.

Explore health-genomics markers through a tier-graded evidence library that separates established findings from emerging research. New personalized-report and consultation intake is paused; join the waitlist for availability updates.

A clinician and patient reviewing a DNA sequence together on a tablet
  • HIPAA-covered entity
  • Health-genomics education
  • 5-tier evidence grading
  • Encrypted, isolated data
What we do
i.

Tier-graded evidence

Every marker we surface carries an evidence tier: STRONG, VALIDATED, MODERATE, EMERGING, or EXPLORATORY. You see what’s clinically actionable today, what’s still under investigation, and where the boundary sits. No false certainty.

ii.

Clinician interpretation

Our evidence library explains how published genomic findings are graded and why personal and family history matter when a qualified clinician interprets genetic data.

iii.

Care coordination

We connect marker context to questions people can bring to their existing healthcare providers, including when confirmatory testing may be worth discussing.

How we grade evidence

Every finding carries an evidence tier.

You see what is clinically actionable today, what is still under investigation, and where the boundary sits. No false certainty.

  1. 01
    強い
    Clinical consensus
  2. 02
    Validated
    Guideline and FDA backed
  3. 03
    適度
    Replicated findings
  4. 04
    Emerging
    Active research
  5. 05
    Exploratory
    Early signal

Common concerns with direct-to-consumer DNA testing.

The clinical necessity of oversight

Direct-to-consumer (DTC) genetic testing provides a broad overview of your genomic profile, yet the clinical interpretation of these findings requires professional oversight. A genetic clinician contextualizes raw data within your personal and family medical history, distinguishing between benign variations and findings that necessitate clinical action.

Professional consultation can place results in context and reduce the risk of unnecessary anxiety or false reassurance from automated reports.

Clinical follow-up and management

If a report identifies markers associated with hereditary conditions, such as predispositions for cardiovascular disease or oncological risks, clinical follow-up is essential. A qualified professional can determine if additional diagnostic-grade testing is required and assist in developing a proactive surveillance or management strategy tailored to your risk profile.

Heritable Health's evidence library connects marker context with questions worth discussing with a qualified clinician, drawing on current clinical standards and peer-reviewed genomic research.

If you have identified a marker of concern, discuss it with a qualified clinician who can review it alongside your personal and family history.

Important DNA markers to discuss with your doctor or genetic counselor.

  • BRCA1 and BRCA2: 乳がんおよび卵巣がんのリスクを高める遺伝子、特にSNPs rs80357906(BRCA1)およびrs1799950(BRCA2)。
  • MCM6: このマーカーは、乳糖持続性または乳糖不耐症に関連しており、特にSNP rs4988235です。
  • FTO: 肥満および2型糖尿病に関連しており、特にSNP rs9939609に関係しています。
  • APOE: アルツハイマー病に関連しており、SNPs rs429358およびrs7412を含みます。
  • TCF7L2: このマーカーは2型糖尿病、特にSNP rs7903146に関連しています。
  • OPRM1: オピオイドおよびアルコール依存症に関連しており、特にSNP rs1799971に関してです。
  • CDKN2A/B: 冠状動脈疾患に関連しており、特にSNP rs1333049に関係しています。
  • CHRNA3: ニコチン依存症に関連するSNPs rs1051730およびrs3750344。
  • CFTR: 嚢胞性線維症に関連しており、特に変異ΔF508(rs113993960)およびG551D(rs113993959)があります。
  • MTHFR: メチレンテトラヒドロ葉酸還元酵素欠損症に関連しており、特にSNPs rs1801133 (C677T)およびrs1801131 (A1298C)が関与しています。
  • KCNJ11: 2型糖尿病に関連しており、特にSNP rs5219(E23K)。

Some markers worth discussing.

A curated selection from the marker library, with evidence tiers and linked references to help you prepare questions for a qualified clinician.

BRCA1 breast cancer 1 gene (rs55770810)

Interested in personalized guidance?

Join the waitlist for updates when personalized reports and video consultations accept new intake. The evidence library remains open while you wait.

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Steps to get started

What you can do today.

  1. Step 1

    Explore the evidence library and note the markers you want to understand.

  2. Step 2

    Join the waitlist for personalized-report and consultation availability updates.

  3. Step 3

    If intake opens in your region, we will share the next steps before you provide DNA data.

Frequently asked questions.

テレゲノミクスとは何ですか?
現在コンサルテーションは受け付けていますか?
今すぐDNAデータをアップロードできますか?
私のDNAデータは安全ですか?
What if a marker needs follow-up?
相談はどのように行われますか?

Understanding SNPs and the human genome.

Genomic complexity and variation

The human genome is comprised of approximately 3.2 billion base pairs, and because you inherit one copy from each parent, each of your cells carries about 6.4 billion in total. While the vast majority of our genetic sequence is identical across the species, roughly 10 million positions exhibit variation between individuals. These points of difference represent the biological diversity that influences everything from physical traits to disease susceptibility.

The role of Single Nucleotide Polymorphisms

A single nucleotide polymorphism (SNP) is a variation at a specific position in the DNA sequence. As the most prevalent form of genetic variation, SNPs serve as critical biological markers. By identifying patterns in these variations, clinicians can map genetic predispositions and better understand the underlying mechanisms of various health conditions.

SNPの説明