The dominant, individualistic understanding of autonomy that features in clinical practice
and research is underpinned by the idea that people are, in their ideal form, independent …

Abstract Purpose of Review Genomic tests offer increased opportunity for diagnosis, but
their outputs are often uncertain and complex; results may need to be revised and/or may …

Genomic technologies have transformed clinical genetic testing, underlining the importance
of accurate molecular genetic diagnoses. Variant classification, ranging from benign to …

The evidence base supporting genetic and genomic sequence-variant interpretations is
continuously evolving. An inherent consequence is that a variant's clinical significance might …

Purpose Although the role of CHEK2 germline pathogenic variants in cancer predisposition
is well known, resources for managing CHEK2 heterozygotes in clinical practice are limited …

The evolving evidence base for the interpretation of variants identified in genetic and
genomic testing has presented the genetics community with the challenge of variant …

Ascertaining a diagnosis through exome sequencing can provide potential benefits to
patients, insurance companies, and the healthcare system. Yet, as diagnostic sequencing is …

There are several key unsolved issues relating to the clinical use of next generation
sequencing, such as: should laboratories report variants of uncertain significance (VUS) to …

Technological advances have increased the availability of genomic data in research and the
clinic. If, over time, interpretation of the significance of the data changes, or new information …

Purpose Variant classifications may change over time, driven by emergence of fresh or
contradictory evidence or evolution in weighing or combination of evidence items. For …