Biomedical Engineering Reference
In-Depth Information
other family members. In this way, the ordering provider will be aware of the poten-
tial scope of incidental fi ndings before ordering WES/WGS testing and can ensure
that informed consent and shared decision-making with the patient includes a dis-
cussion of how incidental fi ndings will be handled. Any return of incidental fi ndings
should be done in collaboration with the ordering provider to ensure those results
are interpreted in the context of the patient's medical and family history and per-
sonal desires for receiving incidental results. Genetic counseling should be offered
to these patients prior and after the NGS tests.
Gene discovery has historically been limited to research laboratories. This is now
changing with the ability to perform WES/WGS to identify novel disease gene can-
didates in the clinical laboratory. Therefore, it is critical for a clinical laboratory to
have an informed consent in place to offer further studies, often in collaboration
with research laboratories, to prove the disease association. In addition, if no muta-
tion that can explain the patient's symptoms is identifi ed, the data can be reanalyzed
for the remaining WES/WGS potential to identify new disease gene associations
which would be beyond the capacity of a clinical test.
9.8
Training and Education
Given the technical and interpretive complexity of NGS, it is recommended by
ACMG that the reporting and oversight of clinical NGS-based testing be performed
by individuals with appropriate professional training and certifi cation (American
Board of Medical Genetics-certifi ed medical/laboratory geneticists or American
Board of Pathology-certifi ed molecular genetic pathologists) and with extensive
experience in the evaluation of sequence variation and evidence for disease causa-
tion as well as technical expertise in sequencing technologies. For clinical laborato-
ries offering WES services, they should have access to broad clinical genetics
expertise for evaluating the relationships between genes, variation, and disease phe-
notypes. Finding people with the correct education and certifi cation to perform the
WES/WGS testing is another challenge that many clinical laboratories have to face.
Ongoing training is necessary to keep up with this fast developing fi eld.
9.9
Cost and Reimbursement
NGS provides a massive information output at a relatively low cost; however, it is
still cost-prohibitive to many families if such test is not covered by their health
insurance or government program (e.g., Medicare/Medicaid). Depending on the
scale of the testing, the price for NGS ranges from several thousands to tens of
thousands of dollars. The American economy is still in the face of recovering from
the recent recession. The record high of national debt will affect the government
funding for healthcare and healthcare research for many years to come. In addition,
currently (March 2013) there is no specifi c CPT code, generated by the American
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