My Role
As a Product Manager working on a Genetic Risk Assessment system, I was responsible for collecting requirements from clinicians, preparing guidelines in collaboration with the National Consultant in Hereditary Diseases and Genetics, and translating them into technical specifications. I worked closely with the engineering team, UX designers, and the business development team to devise a go-to-market strategy.
Challenge
During my tenure at the Cancer Research Institute, I learned that 5-10% of cancer cases are attributed to inherited genetic mutations. These inherited cancers often manifest at an early age, typically before the recommended age for preventive screening diagnostics like mammography. This underscores the critical need to identify high-risk families early and initiate screening procedures sooner. Unfortunately late diagnoses are were still common due to the unavailability of tools for primary care physicians to identify at-risk families. This challenge was a significant motivator for me to develop a tool to support primary care doctors in identifying families at risk of hereditary cancer and facilitate connections with genetic counselors.
Solution
After collecting requirements from primary care physicians and genetic counselors, I defined a list of requirements that the decision support system must meet to be used in clinical practice:
- An interface for patients and nurses to provide information about the history of cancers in a patient’s family.
- Algorithms to analyze the history of diseases to identify if a patient belongs to a high-risk group or not.
- Dynamically generated recommendations for further diagnostics based on the patient’s risk and the latest guidelines.
- An interface for primary care physicians and genetic counselors to quickly understand the hereditary pathway in a family tree.
- An editable knowledge base with risk definitions, guidelines, and classification rules approved by the National Consultant in Hereditary Diseases and Genetics.
We decided against integration with EMR systems at that time after learning that primary care clinics and genetic counselor centers (except hospitals) were not yet broadly using electronic health record systems. Knowing that this would change in the next 5-10 years, we designed our system to facilitate future integrations.
Results
The Genetic Risk Assessment tool reduced the time to identify families at risk from 6-8 weeks to minutes and eliminated the need to use paper questionnaires and sending them to genetic counselor centers for analysis. PCP doctors got results immediately after patient filled online form which allowed them to direct patients for genetic testing or give referrals to genetic counselors without delay. We improved patients’ a access to genetic testing and which is crucial for early cancer detection and treatment.