Parents stand by the bedside of their newborn, frightened. Everything had seemed normal during the pregnancy, but now everything is going terribly wrong. The baby has malformations of his heart and brain, and there is too much acid in his blood. Armies of specialists debate what therapies might be of benefit, but the child rapidly deteriorates and dies within a few days. The parents bravely consent to an autopsy, which further clarifies the nature of the malformations but doesn’t find anything to point to a particular cause. Was the mother exposed to something during her pregnancy, like a toxin or an infection? Was this a chance event? Did the baby have a genetic disorder? These parents may never know, and their sorrow is only multiplied by the nagging question, “Will this happen to our next baby?”
These types of experiences are thankfully rare overall, but every physician who cares for newborns has met these parents. Many cases like this one are the result of genetic mutations that occurred uniquely in the baby or were inherited from the parents. With the advent of our ability to sequence the whole genome or exome (the parts of the genome that make proteins), we might be tempted to think that fewer parents would be left with such uncertainty and a lack of closure. Sadly, this is not the case, because the medical system suffers from administrative anachronisms that simply aren’t up-to-date with the genomics era.
When we, as patients, enter these alternate dimensions, we are all uninsured.
First, and most important, despite the Affordable Care Act (aka Obamacare), one group that remains 100 percent uninsured, grimly but truthfully, is the dead. Once, this made sense. What sort of medical care do the deceased need? In the genomics era, however, as long as someone has a living blood relative, his or her DNA may be medically critical to helping someone who is alive and breathing. The parents we just met may have the fanciest “Cadillac” insurance, but if they wish to perform genetic testing on their deceased child, they are as uninsured as an undocumented immigrant.
Who should pay for “genome autopsies?” Foundations, government institutions, medical centers, physicians, and insurers must recognize the fundamentally different nature of genetic testing compared to other medical tests/procedures and develop an organized and rational means to offer genetic testing for deceased individuals — when clinically appropriate — to assist living relatives.
One might also ask, “Why not send the genomic test right away if a patient seems unlikely to survive?” This question highlights another bureaucratic wormhole of our medical reimbursement system. Rather than pay hospitals for every test sent on inpatients, which might incentivize more testing, insurance companies as a general rule reimburse a flat daily rate for admitted patients that covers many components of the hospitalization, including laboratory tests. Logically, then, many hospitals strictly limit genetic tests on inpatients because the hospital, not the insurance company, pays the bill. Like the dead, another category of patients who are essentially uninsured when it comes to genetic testing are inpatients.
This payment structure ignores the fact that genetic testing provides lifelong information that is not entirely a component of a particular admission. We need policies that separate genetic tests from other tests that are sent as part of an admission and allow insured patients to have access to genetic and genomic technologies in the inpatient setting.
Surely, not every new genomic technology is worth the cost, but if we must ration, it should be based on clinical judgment, not administrative relics. As our healthcare system struggles in general to provide access to medical care for all, we must be vigilant that genetic testing, ironically the future of medicine, is not stuck in the past.
Bryce Mendelsohn, MD, PhD, attended medical school and earned his PhD in molecular genetics and genomics at Washington University in St. Louis and completed a residency in pediatrics at UC San Francisco. He is currently a medical genetics fellow at UCSF and a visiting scientist at the J. David Gladstone Institute of Neurological Disease. His interests include metabolic genetics, clinical applications of next-generation genomic technologies, and ensuring that all patients and families have access to discoveries made in these fields.