Genetic medicine is an evolving area of research, knowledge, and, most importantly, for the majority of you reading this newsletter, clinical applications. At Insight, we’ve taken the position that we can add value to the work of physicians and health care providers by persistently surveying the landscape of this evolution and making the best judgments we can regarding both standards of care and leading edge developments both in discussion with you and on behalf of your patients.
The advent of multi-gene cancer panel testing has dramatically altered the landscape of germline cancer genetic testing. An increasing number of patients are being tested for genes beyond just high-risk, well-established culprits such as BRCA1/2 and the mismatch repair genes associated with Lynch syndrome. While broadening the scope of genetic testing allows for the increased detection of mutations overall, it is important to consider the value this information may or may not offer to individual patients as well as the possible limitations and drawbacks of expanded testing.
As medical providers, you are constantly bombarded with messages from laboratories trying to sell you products, promising their technology is second to none and guaranteeing they can take care of all your patients. But, professional experience has revealed to you that is not the case. We hear these same messages at Insight with the added benefit of an experience team of genetic professionals to evaluate the technology and determine what tests make the most sense for our patient population.
A recent committee option just issued by the American College of Obstetricians and Gynecologists endorses, for the first time, expanded carrier screening as an acceptable strategy for preconception and prenatal carrier screening.
This summer has brought several developments and activities in prenatal and carrier screening to the ever evolving standards and new practices relevant to our work with you.
It has been well established that while the majority of ovarian cancers arise sporadically, up to 20% are considered to be hereditary. Mutations in the BRCA1 and BRCA2 genes provide an explanation in many of these hereditary cases, but not all suggestive personal and family histories are explained by BRCA1/2. As our awareness of additional ovarian-cancer susceptibility genes continues to grow, the scope of available genetic testing has also begun to expand.
This spring edition of our newsletter brings the season-appropriate ‘blooming’ of three announcements from IMG, including new office locations in the Chicagoland.
A third Committee Opinion from ACOG provides increased support for genetic counseling as part of the prenatal and hereditary cancer testing process.
Our clinical location at Swedish Covenant Hospital in the Mayora Rosenberg Women’s Health Center. Feel free to contact us for more information - 312.300.3152.
Taya is a licensed and board-certified genetic counselor in the state of Illinois, and has been a practicing genetic counselor for the last fifteen years.
IMG has introduced a pharmacogenomics (PGx) panel designed to identify genetic variations in drug-gene response with emphasis on antidepressants and analgesics.
What may be underappreciated is the enormous amount of genomic data generated by these new tests and the interpretation for individualized assessment.
With more laboratories offering genetic carrier screening, it is important to review basic aspects of the laboratory analyses behind these tests.
NIPT providers have started offering screening for microdeletions and microduplications in addition to screening for aneuploidies of chromosome 13, 18, 21, X, and Y.
Our growing number of genetic counselors are committed to being on the leading edge of genetic screening and testing options that are available to patients.
In the past year, we have rolled out sequencing-based carrier screening as well as a comprehensive cancer risk program. While these two might seem like programs meant for completely distinct patient populations, we are learning quickly how they overlap.
Follow up notes on the introduction of cell-free DNA testing for ‘low risk’ patients and expanded carrier screening.