The Science - geneType

Unlocking personalized, preventative healthcare

GeneType is transforming healthcare from the one-size-fits-all model to a personalized, preventive approach.

By developing the next generation of integrated predictive genetic testing and assessment tools, we are empowering medical practitioners and their patients to proactively manage health.

The Science

About Polygenic risk

GeneType has been at the forefront of integrated genomic risk assessment and has practiced high standards in creating, optimizing and risk reporting for over 10 years. As the first, and the most scientifically sound commercial integrated risk assessment provider, we are proud of our work. We are even more proud to announce that all of our rigorous an d robust R&D methods with which we used to develop our integrated risk assessment models fit seamlessly within the recent polygenic risk score Reporting Standards (PRS-RS; Wand, Nature 2021) defined by the ClinGen Complex Disease working group. We are thrilled that this working group is taking steps to enable polygenic risk adoption into mainstream clinical care by emphasizing and publishing a best practices framework. Our current practices are being highlighted as best practice in the industry.

Polygenic risk scores (PRS)

are derived from a subset of common genetic markers known as single nucleotide polymorphisms (SNP) that are disease-associated. Each SNP has a possible allele combination, or nucleotide (A,T,C,G) at that specific location.

Discovered in genome-wide association studies (GWAS), each allele has a weighted effect size associated with the disease in question. 

Everybody has these SNP, but we all have different combinations of alleles. Polygenic risk of disease can be quantified when we look at the combination of many disease-associated SNP at one time.

Integrated risk model

is a risk model that combines polygenic risk with other risk factors such as demographics, anthropometrics, and clinical measurements. Traditional models look at the latter components. geneType is unique in its integration of polygenic risk which enables a much better stratification of disease risk within the general population. 

Example of sporadic breast cancer risk stratification in the general population.

How does geneType measure up?

All geneType risk assessments are specifically developed, calibrated and validated for the general population. Direct comparisons against gold-standard clinical models are carried out in cohorts and/or case-control datasets using a variety of statistical methods common in the field of epidemiology.

What does this mean to your practice?

Clinical practice today

Clinical practice with geneType

Traditional risk models identify a very small proportion of very high-risk patients. In fact, the majority of patients fall into general population level risk category. But patients aren’t all the same, are they?

 Using an integrated risk prediction model, you can stratify your general population. Identify more at-risk adults who can benefit from already-existing risk-reducing recommendations.

Our patented technology sets us apart

Patents granted in US
  • Patent 11,031,098, Computer systems and methods for genomic analysis
  • Patent 10,683,549, Methods for assessing risk of developing breast cancer
  • Patent Nos. 9,051,617; 9,068,229 and 9,702,011 covering three of the core genetic markers included in the BREVAGenplus® risk assessment test
  • Patent No. 7,127,355 offering broad protection re: methods of genetic analysis (the concept of combining clinical risk assessment with genetic risk factors to improve predictability over clinical risk assessment alone)
  • Patent No. 6,969,589 covering the identification of informative SNPs
Patents granted in China
  • Patent Nos. 200680051710.0; 201310524782.4; 201310524916.2 and 201310524765.0 “Markers for Breast Cancer”
  • Patent No. 201080033130.5 Methods for Breast Cancer Risk Assessment
  • Patent Nos. 09101235.4; 12112875.1; 12112368.5 and 12112874.2 “Markers for Breast Cancer”
  • Patent No. 12109000.5 Methods for Breast Cancer Risk Assessment
Patent families pending
  • Methods for breast cancer risk assessment
  • Methods for assessing risk of developing breast cancer
  • Improved methods for assessing risk of developing breast cancer
  • Markers for breast cancer
  • Methods for genetic analysis
  • Methods for genomic analysis
  • Methods for assessing risk of developing colorectal cancer
  • Methods of assessing risk developing a disease
  • Methods for assessing risk of developing a severe response to coronavirus infection

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