Potential Tech Paths of Polygenic Scores


The challenge with Polygenic Scoring (PGS) is not a matter of timing
or cost but identifying genuine market needs and pain points that
necessitate the use of PGS. This report outlines various sectors
where PGS can be applied to solve real-world problems. This also acts as a tech path guideline for the Gene to Health team.

Broad-Spectrum PGS for Population Screening

  1. Application: PGS can be used for broad-spectrum screening of populations for various disease risks, comprehensive health check-ups, or phenotype-based cohort selection.
  2. Market Need: There is a growing demand for more targeted and efficient health screening methods.


  1. Application: PGS can be used in agriculture to select plant and animal breeds with desirable traits based on GWAS and low-depth sequencing.
  2. Market Need: With the increasing mechanization of agriculture, there is a need for more efficient an non-GMO alternatives for crop and livestock improvement.

Pet Genomics

  1. Application: Unlike current pet genomic tests that focus on identifying hereditary diseases, PGS can be used for a more comprehensive health profile.
  2. Market Need: The pet care market is booming, and owners are looking for advanced healthcare solutions for their pets.

Clinical Applications in Autism

  1. Application: PGS can be combined with Whole Genome Sequencing (WGS) for clinical applications in diseases like Autism.
  2. Market Need: Despite ACMG guidelines not recommending PGS for clinical use, there is a need for better classification of rare variants in diseases like Autism.

Synthetic Biology

  1. Application: PGS can be combined with synthetic biology to accurately predict microbial phenotypes, accelerating the screening and modification process.
  2. Market Need: The bottleneck in commercial applications is the cost of base synthesis, which PGS can potentially mitigate by reducing the number of iterations needed.

AI Genetic Counseling

  1. Application: Integrate PGS reports with GPT-based services to offer free AI genetic counseling, partially replacing paid professional counselors.
  2. Market Need: Enhance product differentiation and attract more customers by offering value-added services.

Turnkey Solutions for Testing Companies

  1. Application: Offer a complete data service solution for less tech-savvy testing companies, from sequencing to generating comprehensive reports including ancestry, carrier status, PGS, WGS, de novo variants, and rare variants.
  2. Market Need: Many testing companies lack the technical capabilities to offer a wide range of genetic services.

Preimplantation Genetic Testing (PGT)

  1. Application: Use PGS for PGT to screen for common traits or diseases.
  2. Market Need: Despite ethical concerns, there is a growing interest in using genetic information for reproductive decisions.


The potential applications of PGS are vast and varied, spanning
healthcare, agriculture, pet care, and beyond. By identifying the
right market needs and pain points, PGS can be effectively
integrated into various sectors, offering solutions that are both innovative and necessary


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