Downsizing genomic medicine: Approaching the ethical complexity of whole-genome sequencing by starting small

Patient feedback and early outcome data with a novel tiered-binned model for multiplex breast cancer susceptibility testing

“…7 There are both advantages and disadvantages of multigene testing (as opposed to traditional phenotype-driven sequential testing), presenting challenges to patient education and informed decision making. 3,[7][8][9][10] The advantages and disadvantages of testing options must be shared with patients so they can make an informed decision regarding genetic testing. 8,[11][12][13][14] Traditional comprehensive models for pretest counseling and informed consent could be associated with information overload and poor informed decision making.…”

“…3,[7][8][9][10] The advantages and disadvantages of testing options must be shared with patients so they can make an informed decision regarding genetic testing. 8,[11][12][13][14] Traditional comprehensive models for pretest counseling and informed consent could be associated with information overload and poor informed decision making. 7,15 In addition, multiplex testing has the potential to increase anxiety, uncertainty, and the adoption of inappropriate screening procedures or risk-reducing surgeries.…”

Molecular Genetics of Intellectual Disability

“…These may contain the carrier status or indicate the presence of high risk variants regarding other diseases. So there must be a responsible management on if, what and how this information will be returned to the patients, and on the psychological consequences of having knowledge of such data (Sharp, 2011). Other, more practical concerns, regard the ownership, storage and access to the data, especially considering future unanticipated applications.…”

Personalized Medicine: Impact on Patient Care in Genetic Counseling

“…long QT syndrome, multiple endocrine neoplasia type 1); however, specialists disagreed more when the patient was a child and for conditions where medical intervention is not currently available. One approach may be to release genomic information over time, as more is learned about the biological significance of certain genetic variants and/ or as the patient reaches a stage in life where the genomic information may be important for his/her medical management [37]. A ''binning'' system has also been proposed, which would separate clinically actionable results from WGS into a different category from those that are clinically valid yet not directly actionable and, further, from those that have unknown or no clinical significance [38].…”