Macular Degeneration Genetic Risk — AMD has approximately 70% heritability, and complement-targeted therapies for geographic atrophy are now FDA-approved, with genetic complement variant status potentially guiding treatment selection.
Whole genome sequencing evaluates all AMD-associated genes — CFH, ARMS2/HTRA1, C3, CFB, C2, CFI, TIMP3 — providing the genetic risk profile that informs screening intensity, lifestyle modification urgency, and eligibility for complement-targeted therapies.
Macular Degeneration — Genetic Risk
Age-related macular degeneration (AMD) is the leading cause of central vision loss in adults over 50, affecting approximately 11 million Americans. AMD has one of the highest heritabilities of any common disease — approximately 46-71%. The complement factor H (CFH) Y402H variant (rs1061170) on chromosome 1q31.3 is the strongest single genetic risk factor: carriers have approximately 2.5-7x increased risk depending on genotype (heterozygous ~2.5x, homozygous ~5-7x). The second major locus is ARMS2/HTRA1 on chromosome 10q26, conferring ~2.5-3x risk per allele. Together, CFH and ARMS2/HTRA1 explain approximately 50% of AMD heritability.
The complement pathway has become a therapeutic target for AMD. Pegcetacoplan (Syfovre) and avacincaptad pegol (Izervay), both complement inhibitors (C3 and C5 inhibitors respectively), received FDA approval in 2023 for geographic atrophy (GA) — the advanced dry form of AMD for which no treatment previously existed. These complement-targeted therapies slow GA progression by approximately 20-30%. Genetic complement variant status (CFH, C3, CFB genotypes) may influence treatment response — preliminary evidence suggests that patients with certain CFH risk genotypes may have differential complement inhibitor responses, though this pharmacogenomic application is still being validated.
Additional AMD susceptibility genes include C3 (complement component 3, rare risk variants with strong effect), CFB (complement factor B), C2 (complement component 2), CFI (complement factor I), TIMP3 (tissue inhibitor of metalloproteinases 3 — also causes Sorsby fundus dystrophy, a monogenic AMD mimic), ABCA4 (Stargardt disease — can mimic AMD in adults), and BEST1 (Best disease — another AMD mimic). Distinguishing polygenically-driven AMD from monogenic macular dystrophies that mimic AMD (Stargardt, Sorsby, Best disease) has important implications — monogenic conditions have specific treatments, earlier onset, and Mendelian recurrence risks.
Complement inhibitors (pegcetacoplan, avacincaptad) are the first FDA-approved treatments for geographic atrophy — the advanced dry AMD for which no treatment existed before 2023. CFH genotype may predict treatment response.
AMD is the leading cause of central vision loss with 70% heritability. Complement-targeted therapies are now available, and genetic risk profiling guides screening intensity, lifestyle intervention urgency, and may predict therapy response.
CFH genotype may predict complement inhibitor response — precision AMD therapy is emerging
Preliminary pharmacogenomic data suggests that AMD patients with specific CFH, C3, and CFB genotypes may respond differently to complement-targeted therapies. While these associations are still being validated in clinical trials, establishing a patient's complement gene genotype through WGS provides the genetic data needed for future pharmacogenomic-guided AMD therapy selection. Additionally, high-risk CFH genotypes identify individuals who benefit most from aggressive modifiable risk factor management (smoking cessation, AREDS2 supplementation, blood pressure control).
Monogenic macular dystrophies (Stargardt, Best, Sorsby) mimic AMD but have different treatments and genetic counseling implications
Adult-onset Stargardt disease (ABCA4), Best disease (BEST1), and Sorsby fundus dystrophy (TIMP3) can present with macular degeneration clinically indistinguishable from AMD. These monogenic conditions have Mendelian inheritance (50% risk to offspring for dominant conditions), potentially different treatment responses, and — for Stargardt — eligibility for emerging gene therapy trials. WGS distinguishes these monogenic mimics from typical polygenic AMD, enabling accurate genetic counseling and appropriate treatment selection.
Your full DNA (not just a part of it)
Traditional genetic testing looks at narrow sets of genes, missing most parts of your genome. We sequence your full genome — every gene and every region between genes.
Comprehensive insights and specialized reports
Easy to read and with answers you and your doctor can act on. Not a file to interpret — 200+ clinical reports, organized by category.
Your test becomes more valuable every year
Your DNA does not change, but genome science is accelerating. Every month, new variant-disease associations are discovered. We validate these findings and update your reports automatically. Your test becomes more valuable every year.
The results doctors bring to their hardest cases.
Forty years of uncertainty. One test.
A patient had spent decades in the UK healthcare system without a diagnosis. Dante data, accepted by NHS clinical teams at Queen Elizabeth University Hospital Glasgow, identified Noonan Syndrome and a RUNX1 leukemia-associated variant that had gone undetected. After 40 years, they finally had an answer.
A complete read delivers a complete picture.
A patient came to Dante to investigate periodic paralysis. Reading the complete genome identified a concurrent hereditary cardiac finding — Brugada syndrome — that their doctor confirmed with an ECG. The result also explained a family member's unresolved cardiac history. One test. Every answer in it.
Sequenced in 2019. The data worked in 2021.
Jennifer sequenced her genome with Dante two years before her breast cancer diagnosis. When treatment began, Dante's pharmacogenomics data showed her prescribed chemotherapy would cause serious adverse effects. Her doctor selected an alternative — and she started effective treatment from day one.
Every genetic question deserves a complete answer.
Whether you are searching for answers today or protecting your health for tomorrow, a complete read of your entire genome is the only place to start.
It runs in your family. Now you can know if it runs in your genes.
Your genome contains inherited variants associated with medical conditions like cardiac, cancer, and neurological. We read all of them — with the clinical depth to give the result meaning.
Learn more →When traditional lab tests say you're fine. And you know you're not.
Standard diagnostic tests check for a pre-selected set of answers. We sequence your full DNA — including parts that no test was designed to check. If the answer is in your genome, we will help you find it.
Learn more →Your diagnosis may be right. Your treatment plan may be incomplete.
Your genes determine which treatments are most likely to work — and which are not. We give your doctor the tools and insights to inform your treatment plan.
Learn more →You want to know before something forces the question.
Some people don't wait for a diagnosis or a family history to act. Whole genome sequencing gives you the complete genetic picture now — so you and your doctor can make informed decisions before anything becomes urgent.
Learn more →You already took a DNA test. Here's what it couldn't tell you.
Most consumer DNA tests read less than 0.1% of your genome. We read all of it.
Learn more →Clinical-grade results. Chosen by individuals, trusted by doctors for their most complex cases.
Dante Genome Test helped specialists at a UK national acute hospital in the identification of Noonan Syndrome and a rare leukemia-associated genetic variant that had gone undetected. That result changed the medical care of the patient.
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Common questions about whole genome sequencing.
What is the difference between whole genome sequencing and a targeted genetic test?
Targeted genetic tests — including standard hereditary cancer panels — read a pre-defined list of known variants in a specific set of genes. They are designed to find what they already know to look for. Whole genome sequencing reads your entire genome: all 6 billion base pairs, every gene, every region between genes. A Mayo Clinic study published in JAMA Oncology found that standard testing guidelines missed more than half of patients with inherited cancer mutations. Genome Test does not have a fixed list.
What will I receive when my results are ready?
Your Dante Genome delivers 200+ physician-ready reports organized by clinical category — hereditary cancer, cardiac conditions, rare diseases, pharmacogenomics, carrier status, and more. Reports are delivered to your secure Genome Manager and are formatted for direct clinical use. Your genome data is permanently retained and re-analyzed automatically as science advances.
What happens if a clinically significant variant is found?
If a pathogenic or likely-pathogenic variant is identified, it will be clearly flagged in your physician-ready report with clinical context, published evidence, and recommended next steps. We recommend sharing any clinically significant finding with your physician or a genetic counselor, who can guide decisions about surveillance, risk reduction, or cascade testing for family members.
How is this different from a consumer DNA test like 23andMe or AncestryDNA?
Consumer DNA tests use genotyping chips that read less than 0.1% of your genome — a tiny pre-selected set of common variants. They are optimized for ancestry and population-level traits, not clinical genetic findings. The Dante Genome Test sequences 100% of your genome at 30X coverage, the same standard used in clinical diagnostic settings. The two tests are not comparable in scope, methodology, or clinical utility.
How long does it take to get results, and how are they delivered?
Your collection kit ships within 48 hours of ordering. Once your sample arrives at our CLIA-certified laboratory, sequencing and analysis takes 6–8 weeks. Results are delivered securely to your Genome Manager, where you can access your reports, share them with your physician, and receive automatic updates as new findings are validated against your genome.
We work with patient advocacy groups worldwide.
Dante Labs works with patient advocacy groups of any size — for Macular Degeneration — Genetic Risk and other conditions, rare and common. We support groups in any country, including virtual patient advocacy groups.
We can provide customized reports, group discounts, and packages tailored for your members. Please reach out using the form and we'll be in touch within two business days.
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One test.
A lifetime of answers.
One kit, sent to your home. Your entire genome sequenced at the clinical standard used for diagnostic decisions. 200+ physician-ready reports delivered to your Genome Manager in 6–8 weeks — permanent and updated as science advances.
Ships within 48 hours · Results in 6–8 weeks
