The Baylor PGP's design and implementation are guided by the following guiding principles: high quality, robustness, low cost, adaptability, practical clinical utility, and the capacity to facilitate numerous areas of clinical research. The focus on extensive screening for rare disease-causing mutations rather than common riskincreasing polymorphisms is the approach's single most distinctive feature. The ability to screen for these variants at a low cost could have a significant impact on disease diagnosis, carrier detection, early detection of late-onset disease before symptoms appear, and even prenatal diagnosis. This system will not only create a counselling tool for individual "consumers," but it will also fit into the existing medical record and be used by doctors who provide direct patient care.
Published Date: 2023-03-27; Received Date: 2023-03-01
