June 24, 2022
"I’m not seeing any function in your daughter’s kidney," the doctor stated. "There are several cysts." These were the words that came out of my doctor’s mouth during my 20-week anatomy ultrasound. Several doctors confirmed a diagnosis—multicystic dysplastic kidney—while my daughter was in utero. At birth, she was paired with a urologist and nephrologist to create a plan of action. In her first few months of life, her clinical team watched as one kidney grew larger than the other. Eventually, the smaller, cystic kidney was no longer visible in an ultrasound.
With a family history of severe renal disease—including Alport syndrome—my daughter’s physicians referred us to a pediatric geneticist, who performed a kidney panel on my now two-year-old daughter. To be able to unlock more of her precise genetic information, my hope is that I can use these insights to make more fully informed healthcare decisions to protect my daughter’s future.
This real story from a fellow colleague of mine isn't an uncommon one. It illustrates the benefits of genetic testing: an opportunity to turn knowledge into action. With next-generation sequencing (NGS) technologies creating new ways to understand genomic samples faster and more affordably, NGS is transforming medicine. From enabling the diagnosis of genetic disorders to detecting novel disease variants, NGS is helping accelerate scientific and clinical applications and bridging the gap between genomic intelligence and our understanding of human health.
Through early detection and diagnosis of disease, people can now use NGS to assess individual risk of disease and inform disease-management strategies. This information can also help those beyond the individual—sharing insights with family members can help determine if others may be at risk and lead to improved medical care for many. NGS technologies also are increasingly important in cancer research, helping enable early detection and interception, building knowledge around tumor evolution and potential target therapies and opening the doors for patients to start benefiting from research breakthroughs.
Cancer Sequencing Technologies That Are Driving Precision Medicine