At Mayo Clinic, the future of health care promises individual-driven innovation with patient care designed for your whole body. One way that we're fueling this innovation is through the Center for Individualized Medicine (IM Clinic) which offers genomic testing to patients in order to further personalize care. Health care providers use knowledge about a patientâ€™s genome (or DNA) to diagnose, predict, treat and prevent disease â€” Â allowing medical care to be tailored to the patientâ€™s genomic make-up.
Recently, researchers from the IM ClinicÂ presented results of three different studies evaluating implications and feasibility ofÂ genome sequencingÂ at theÂ ACMG Annual Clinical Genetics MeetingÂ in Nashville, Tenn. Here are the highlights from each presentation:
- Patientsâ€™ Views on Incidental Findings from Clinical Exome Sequencing:Â TheÂ IM ClinicÂ offers whole-exome sequencing for patients with advanced cancers and difficult diagnoses. Among the difficult questions clinicians and patients wrestle with is, â€śHow much information is too much?â€ť Researchers interviewed 44 patients of the Individualized Medicine Clinic about what they would and wouldnâ€™t want to know fromÂ next-generation sequencing. Findings demonstrate that patient perspectives of risks and benefits of knowing genomic information are personal and contextual. As one participant stated, â€śI think this is the Individual Medicine program for a reason. Everything has to be on a case-by-case basis.â€ť
- Whole-Exome Sequencing of 10 Scientists: Evaluation of Process and OutcomesÂ (poster presentation) â€” As genome sequencing technologies advance at a breakneck pace, patients will increasingly expect to have theirÂ whole exomeÂ â€” and eventually theirÂ whole genomeÂ â€” embedded in their records, just like family histories and medication lists. In an attempt to understand the difficulties and limitations of whole-exome sequencing in routine care, 10 genetics scientists underwent sequencing and genomic counseling.
- Pharmacogenomic Information in the EMR: Perspectives of Biobank Participants Invited to Participate in a Proof of Concept PGx StudyÂ (poster presentation) â€” The debate is just getting started over who will have access to genomic information and how that information will (or wonâ€™t) be protected. Researchers asked 900 participants in a pilotÂ pharmacogenomicsÂ study their understanding and concerns about a pilot program embedding their personal genomic information into patient electronic medical records. From this sampling of participants in theÂ Mayo Clinic Biobank, the largest concern was whether insurance companies could have access to genomic information.