During a recent conversation with Dr. Dan Zimmerman from 69É«ÇéƬ’s , 69É«ÇéƬ Genetics Consultant Dr. Sajel Lala Kana offers detailed insights into genetic testing issues impacting clinical and insurance medicine.
Advancements in genetic science are significantly enhancing neonatal diagnostics, reproductive technologies, and the ability to manage a diverse array of conditions. These present a substantial opportunity for insurers to develop robust and inclusive risk models that can leverage these advancements, but significant challenges still remain.
During a recent conversation with Dr. Daniel D. Zimmerman, Senior Vice President and Chief Science Advisor at 69É«ÇéƬ and co-editor of ReFlections, 69É«ÇéƬ Genetics Consultant Dr. Sajel Lala Kana offered detailed insights into some of the current issues in genetics that are most impacting clinical and insurance medicine.
Dr. Kana: In vitro fertilization (IVF) offers a valuable and powerful tool to couples who know they carry specific pathogenic genetic variants. Preimplantation genetic testing (PGT), which tests embryos intended for implantation, can increase the likelihood of healthy pregnancies by mitigating the risk of transmitting known pathogenic variants. This makes PGT a powerful strategy for improving the chances of having healthy, viable, and variant-free offspring. A study in the Journal of Medical Genetics confirmed that PGT can significantly improve pregnancy outcomes for couples at increased risk of transmitting one or more genetic disorders to offspring.1
Dr. Kana: NIPT has emerged as a truly transformative technology in prenatal care. A simple maternal blood draw will contain circulating cell-free fetal DNA fragments (cffDNA), which can offer a valuable window into a fetus’s genetic makeup.2 Currently, NIPT is used primarily to screen for common chromosomal abnormalities such as Trisomy 21 (Down syndrome), Trisomy 18, Trisomy 13, and extra or missing copies of the X or Y chromosome.
NIPT’s use in routine prenatal care is steadily increasing but may vary depending on individual circumstances such as maternal age and family history.
While noninvasive prenatal genetic testing (NIPT) may boast high detection rates for these conditions and poses minimal risk to mother and fetus, it is crucial to acknowledge that this is fundamentally a screening tool, and its results are not a definitive diagnosis.
The American College of Obstetricians and Gynecologists (ACOG), in fact, emphasizes that NIPT carries a small chance of false positives or negatives, and says further diagnostic procedures may be necessary, depending on the results.3
The field of neonatal care is experiencing a sizable paradigm shift due to the application of novel genetic-related technologies.
Dr. Kana: The field of neonatal care is experiencing a sizable paradigm shift due to the application of novel genetic-related technologies. For example, for newborns presenting with complex medical issues, whole genome sequencing (WGS), which can produce results for a clinical team in as little as 48 hours, offers a potentially powerful clinical tool, especially as results might reveal an underlying genetic cause of a child’s condition.
An article in a recent issue of Nature Medicine highlighted how WGS might expedite and improve diagnostic accuracy for a wide range of genetic disorders in neonates.4 This could lead to a more precise understanding of a child’s condition, which could significantly impact case management, especially for a critically ill patient in an intensive care setting. Furthermore, by pinpointing a possible genetic cause, WGS can empower parents with valuable information regarding the condition, its prognosis, and its potential management options. This knowledge can equip them to make informed decisions about their child's care and connect with relevant support groups.
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