Abstract
BackgroundThe revolution in DNA sequencing technologies over the past decade has made it feasible to sequence an individual’s whole genome at a relatively low cost. The potential value of the information generated by genomic technologies for medicine and society is enormous. However, in order for exome sequencing, and eventually whole genome sequencing, to be implemented clinically, a number of major challenges need to be overcome. For instance, obtaining meaningful informed-consent, managing incidental findings and the great volume of data generated (including multiple findings with uncertain clinical significance), re-interpreting the genomic data and providing additional counselling to patients as genetic knowledge evolves are issues that need to be addressed. It appears that medical genetics is shifting from the present “phenotype-first” medical model to a “data-first” model which leads to multiple complexities.DiscussionThis manuscript discusses the different challenges associated with integrating genomic technologies into clinical practice and describes a “phenotype-first” approach, namely, “Individualized Mutation-weighed Phenotype Search”, and its benefits. The proposed approach allows for a more efficient prioritization of the genes to be tested in a clinical lab based on both the patient’s phenotype and his/her entire genomic data. It simplifies “informed-consent” for clinical use of genomic technologies and helps to protect the patient’s autonomy and privacy. Overall, this approach could potentially render widespread use of genomic technologies, in the immediate future, practical, ethical and clinically useful.SummaryThe “Individualized Mutation-weighed Phenotype Search” approach allows for an incremental integration of genomic technologies into clinical practice. It ensures that we do not over-medicalize genomic data but, rather, continue our current medical model which is based on serving the patient’s concerns. Service should not be solely driven by technology but rather by the medical needs and the extent to which a technology can be safely and effectively utilized.
Highlights
The revolution in DNA sequencing technologies over the past decade has made it feasible to sequence an individual’s whole genome at a relatively low cost
Summary: The “Individualized Mutation-weighed Phenotype Search” approach allows for an incremental integration of genomic technologies into clinical practice
Reporting mutations identified by genome sequencing in such genes has not been resolved [22], [23]. It appears that medical genetics is shifting from the present “phenotype-first” medical model to a “data-first” model which leads to multiple complexities
Summary
Overview of current clinical genetic practice In current clinical practice, in order to identify the genetic variant responsible for a patient’s disease, first there. For this method to be most useful, the database has to include all known diseases which have been both phenotypically and genetically well characterized, at any given time, and be regularly updated based on research findings and clinical experience Searching this database while taking into consideration both the patient’s phenotype and his/her entire genomic data when ranking the results could aid enormously in the medical genetic evaluation of patients (please refer to discussion below). It appears that medical genetics is shifting from the present “phenotype-first” medical model to a “data-first” model which leads to multiple complexities This manuscript discusses a “phenotypefirst” approach, namely, Individualized Mutationweighed Phenotype Search (I-MPOS), which could potentially render widespread use of ES/WGS, in the immediate future, practical, ethical and clinically useful. As long as the necessary academic collaborations for the programme are available, noncommercial applications of this method will remain free of charge
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