What Probably Genetic does

Probably Genetic, operating as a Delaware-incorporated subsidiary (Aiwa Health, Inc., d/b/a Probably Genetic, San Francisco, founded 2018), runs a patient-initiated rare disease genetic testing platform built around whole exome sequencing (WES) and AI-driven symptom-to-variant matching. Patients or caregivers complete an online health and symptom assessment; eligible individuals receive a clinical-grade saliva or cheek swab kit shipped to their home, with results reviewed by board-certified genetic counselors and processed through CLIA-certified, CAP-accredited labs under HIPAA-compliant handling. The company serves undiagnosed patients, caregivers of rare disease patients, neurodevelopmental disorder patients (autism, GDD, ID), biopharmaceutical companies, and 50+ patient advocacy groups, covering 10+ therapeutic areas including SYNGAP1, GRN FTD, CTX, and Alpha-Mannosidosis, with over 200,000 patients reportedly using the platform and a stated 50%+ diagnostic rate in previously unexplained cases.

The platform has two parallel testing pathways: a partner-funded no-cost program where pharma, researchers, or advocacy groups pay for testing in exchange for access to de-identified or consented patient data, and an insurance-billed pathway facilitated through telehealth partners PWN Health (commercial insurance) and Genome Medical (Medicare/Medicaid). Revenue mechanics combine pharma/Biotech data partnership fees with insurance-billed test economics, where Probably Genetic absorbs the genetic counseling cost. CEO and co-founder Lukas Lange leads a team of 11-50 employees. Cumulative disclosed funding totals approximately $11 million, anchored by a ~$10.7M round in November 2023, alongside earlier Y Combinator, Calm/Storm VC, and Audrey Capital backing; testing is currently US-only, and the company also monetizes its aggregated patient cohort via an AI-powered discovery platform sold to biopharma for clinical trial recruitment and real-world evidence generation.

Name

Probably Genetic

Legal name

Probably Genetic Inc.

Website

https://probablygenetic.com

Company type

Private

Founded year

2018

Operating status

Operating

Headcount range

11–50 employees

Short description

Probably Genetic operates a patient-initiated rare disease genetic testing platform using AI-driven whole exome sequencing, serving undiagnosed US patients, caregivers, advocacy groups, and biopharma partners seeking patient cohorts.

Ownership category

akta.pro rank

Product category

Genetic Testing / Rare Disease Diagnostics

NAICS

Medical and Diagnostic Laboratories (6215), Medical Laboratories (621511), Research and Development in Biotechnology (except Nanobiotechnology) (541714)

SIC

Services-Medical Laboratories (8071), Services-Commercial Physical & Biological Research (8731)

akta.pro primary industry

Molecular Diagnostics & Genomics Laboratories (HLAFAMAE)

akta.pro secondary industries

Genetic & Genomic Testing (germline, somatic, carrier, pharmacogenomics) (HLAAALAD), Genomics & Molecular Diagnostics (Trial Support) (HLAGAEAD)

Keywords

• Rare disease diagnostics
• Whole exome sequencing
• Genetic testing platform
• AI patient discovery
• Diagnostic odyssey

Headquarters

HQ city

San Francisco

HQ country

United States

HQ region

North America

Offices1 record

Markets served

GTM type

B2B and B2C

Offering type

Services

Cost components

Technology or R&D, Personnel, Operations, Marketing or Sales, Infrastructure, Supply Chain

Revenue model

1. Pharma/Biotech Research Partnerships: Drug researchers, developers, and advocacy groups pay for access to patient data and testing programs. These partners fund free testing programs for patients, and in return gain access to de-identified or consented patient data for therapeutic development.
2. Insurance-Billed Genetic Testing: For patients not eligible for free programs, testing is ordered through telehealth partners and billed to commercial insurance (via PWN Health) or Medicare/Medicaid (via Genome Medical). Probably Genetic covers the genetic counseling appointment cost; the lab bills insurance for the sequencing test.
3. B2B Data Platform for Drug Developers: Biopharmaceutical companies and patient advocacy groups use Probably Genetic's AI-powered data platform to identify and recruit rare disease patients for drug development and commercialization. Partners pay for patient discovery and access to the platform.

Pricing tiers

Go-to-market motion2 records

Distribution channels5 records

Marketing channels7 records

Core offering

Probably Genetic delivers clinical-grade whole exome sequencing to undiagnosed rare-disease patients through two pathways: (1) no-cost testing programs funded by pharmaceutical and advocacy partners for patients with specific conditions (e.g., SYNGAP1, GRN-FTD, CTX, alpha-mannosidosis), and (2) an insurance-billed pathway facilitated via telehealth genetic counselors (PWN Health for commercial insurance, Genome Medical for Medicare/Medicaid). All programs include at-home saliva/cheek swab collection, CLIA-certified/CAP-accredited lab processing, board-certified genetic counseling, and HIPAA-compliant handling. The company also licenses an AI-driven patient discovery and data platform to biopharma and advocacy partners to identify and recruit rare-disease patients.

Product overview

Probably Genetic offers a dual-pathway genetic testing platform consisting of (1) free no-cost testing programs for specific rare diseases funded by pharmaceutical partners and advocacy groups, and (2) an insurance-billed testing pathway via telehealth partners. The core technology is whole exome sequencing offered alongside genetic counseling. The company also operates an AI-powered patient discovery platform for pharmaceutical partners and patient advocacy groups to identify undiagnosed rare disease patients. Active free testing programs include SYNGAP1 Related Disorders, GRN FTD, Cerebrotendinous Xanthomatosis (CTX), and Alpha-Mannosidosis. The company was founded in 2018 and serves patients in the United States.

Differentiator

Problem solved

Functional benefit

Products and services

• Free Genetic Testing Program
• Insurance-Billed Testing Program
• Whole Exome Sequencing Test
• AI Patient Discovery Platform
• Genetic Counseling Services

Quantifiable outcome

• 50%+ diagnostic rate — the tests helped diagnose more than 50% of people who previously had unexplained symptoms.
• +4 more outcomes

Named customers4 records

Segments5 records

Ideal customer profiles2 records

Technology focussed Yes

API detail

Has API

No

API docs

API detail

Core technology

AI maturity

App detail

AI capability5 records

Feature4 records

Partnerships

Six partnerships are on record, tiered core.

• Bluefield Project to Cure FTDcoreStrategic or Co-development PartnerPartnership with the Bluefield Project to Cure FTD to identify currently diagnosed frontotemporal dementia (FTD) patients who may have a GRN variant, or family members of FTD patients who may have inherited a disease-causing GRN variant. The collaboration supports a free testing program for eligible FTD patients and their families.
• PWN HealthcoreImplementation/ SI/ Consulting PartnerPWN Health serves as the telehealth genetic counseling partner for all commercially insured patients. Patients completing a profile with Probably Genetic and confirmed eligible receive a link to schedule a genetic counseling appointment with PWN Health. If testing is recommended, PWN Health orders it and the lab bills insurance.
• Genome MedicalcoreImplementation/ SI/ Consulting PartnerGenome Medical is the telehealth genetic counseling partner for patients covered by Medicare or Medicaid. Patients' information is sent to Genome Medical, which schedules a telephone genetic counseling appointment. Genome Medical orders testing if medically appropriate.
• Patient Advocacy Groups (50+)coreGTM or Marketing PartnerDeep integration with over 50 patient advocacy groups across therapeutic areas including immunodeficiencies, pediatric seizures, MSK, and other rare disease categories. These partnerships enable co-designed free testing programs and serve as the primary community outreach and patient referral channel.
• Sequencing Laboratory (CLIA-Certified & CAP-Accredited)coreTechnology or IntegrationProbably Genetic partners with a CLIA-certified and CAP-accredited sequencing laboratory for all genetic testing. Bioinformatics analysis is executed in a HIPAA-compliant environment and result reports are signed out by a certified clinical lab director. All partner labs sign Business Associate Agreements (BAAs).
• PWNHealth (Independent Physician Network)coreImplementation/ SI/ Consulting PartnerAll Probably Genetic tests are ordered by a physician from PWNHealth's independent clinician network. A PWNHealth physician reviews patient information to evaluate test appropriateness and approve requests. The network also reviews symptom assessments for eligibility within approximately one week.

Scale indicators6 records

Recent moves6 records

Expansion highlights6 records

Direct peers

• GeneDx: GeneDx is a clinical genetic testing company specializing in rare disease and pediatric rare disease whole exome and genome sequencing. It is the most direct competitor to Probably Genetic in patient-facing rare disease diagnostics, with overlapping WES offerings and similar target patient populations.
• Sano Genetics: Sano Genetics is a precision medicine platform that combines genetic testing with patient engagement and pharma research partnerships for rare disease drug development. It mirrors Probably Genetic's dual focus on direct-to-patient genetic testing and biopharma data/recruitment services.
• Natera: Natera is a genetic testing company with strengths in reproductive health, oncology, and organ transplant testing using cell-free DNA and related technologies. It overlaps with Probably Genetic in offering clinical-grade genetic testing to consumers and providers with payor-reimbursed pathways.
• Color Health: Color Health is a genomics platform offering hereditary cancer and rare disease genetic testing with a population-health and employer-channel focus. Its combination of consumer-initiated genetic testing and pharma/health system data partnerships makes it a direct comparator to Probably Genetic's model.

Broad incumbents

• Invitae (Labcorp): Invitae, acquired by Labcorp, is a major medical genetics company offering hereditary cancer, rare disease, and reproductive health genetic testing at scale. It is a broad incumbent with established payor relationships and a much larger test menu, representing both a competitor and a potential exit/roll-up candidate for Probably Genetic.
• Myriad Genetics: Myriad Genetics is an established molecular diagnostics company offering hereditary cancer, psychiatric, and rare disease genetic tests. It competes in the same clinical-grade rare disease testing market as Probably Genetic, with a longer operating history and broader commercial infrastructure.
• Quest Diagnostics: Quest Diagnostics is one of the largest clinical laboratory networks in the US, offering a broad menu including genetic and molecular diagnostics. It competes with Probably Genetic in the insurance-billed testing pathway and represents the type of scaled incumbent that could encroach on patient-initiated rare disease testing.
• Labcorp: Labcorp is a global clinical laboratory and diagnostics leader that now includes Invitae's genetic testing capabilities. As a broad incumbent with extensive payor contracts, it is both a competitor in rare disease diagnostics and a potential strategic acquirer of focused players like Probably Genetic.
• 23andMe: 23andMe is a consumer genetics company with a direct-to-consumer testing model and a therapeutics and pharma data platform. It shares Probably Genetic's DNA testing funnel and pharma data monetization angle, though its focus historically has been ancestry and wellness rather than rare disease diagnosis.

Others

• Genome Medical: Genome Medical is a telehealth genetic counseling and clinical genetics service that serves as a referral and ordering partner for genetic testing. It is an ecosystem participant (and current Probably Genetic telehealth partner for Medicare/Medicaid patients) rather than a direct competitor, but its physician network model overlaps with parts of the diagnostic workflow.

Market position

Strengths5 records

Weaknesses5 records

Competitive moat5 records

Key risks6 records

Key highlights7 records

Customer concentration

• Xtwitter.com/ProbGenetic
• Facebookfacebook.com/ProbablyGenetic
• LinkedInlinkedin.com/company/probablygenetic
• Instagraminstagram.com/probablygenetic

Compliance4 records

Revenue estimate

Valuation estimate

Number of profiles

Profiles1 record

Funding overview

Funding rounds4 records

Investors5 records

Funding detail is available on the Subscription and Enterprise plan.Contact sales →

M&A

Investments

M&A and investment is available on the Subscription and Enterprise plan.Contact sales →

Frequently asked questions about Probably Genetic