Nina Gold, MD, is Chief Resident of Medical Genetics at Boston Children’s Hospital.
During a quiet stretch of my final year in medical school, I read Sir Arthur Conan Doyle’s Sherlock Holmes stories. A master observer, the detective found secrets in wrinkles of clothes, tints of hair, scents of perfume, never satisfied until the truth was revealed. Sherlock was, simply, an expert diagnostician.
In the spring of 2014, I became the first student in my medical school to pursue residency training in a combined pediatrics and medical genetics program. Like Sherlock, pediatric geneticists are stalwart investigators. They are often called into a case long after other consultants and tasked with bringing a family’s diagnostic odyssey to an end. But unlike the emotionally obtuse fictional detective, geneticists must describe their findings with empathy and clarity to concerned families after they solve a mystery.
After college, I had worked with one of the pioneers of medical genetics, himself improbably named Dr. Holmes. He was not only a detective of rare disorders, but also an exceptional communicator and patient advocate. This was the type of physician I wanted to become.
Wanted: Interpreters of the genome
Unfortunately, my decision to become a geneticist is an uncommon one for medical trainees. Medical genetics residencies and fellowships receive far fewer applications than their counterparts in fields such as pediatric hematology-oncology or pediatric cardiology.
Medical geneticists are urgently needed. As genetic technology advances and becomes integrated into medicine, we need more interpreters of the genome, liaisons between the world of big data and worried families inside exam rooms. Medical geneticists are in a unique position to shape the implementation of personalized medicine by educating their colleagues, trainees and the public.
Many of the genetics trainees I know recall an early affinity for the field, in a high school biology class or as a college mentor for a special needs child. Less common seem to be talented students who are drawn to genetics at a later stage of training.
For some trainees, identifying a genetic diagnosis will never trump the satisfaction of intubating a child in distress, suturing a gaping laceration or even treating a bacterial infection. By contrast, genetic information can seem like an academic curiosity, rarely changing patient outcomes.
But early identification of genetic disorders can be life-changing. In the 1960s, state-run newborn screening programs turned diseases such as phenylketonuria and congenital hypothyroidism from sure harbingers of developmental delay into treatable disorders with relatively minor impacts on cognition.
Yet we still struggle to identify patients with metabolic disorders not included in state screening, such as lysosomal storage disorders. Patients with one such disorder saw an average of five physicians over an average of 2.7 years before receiving a diagnosis. During this time, some could have undergone a disease-modifying bone marrow transplant. As technologies such as CRISPR gene editing begin to promise true cures, the need for genetic diagnosis will become even more urgent.
A genetic knowledge gap
Why do so few young doctors choose genetics? Compared with other fields of medicine, the field of genetics may seem dry and technical. Our notes read like textbook chapters, our vocabulary is esoteric and we find untold joy in strings of letters and numbers. Medical students have reported that they did not perceive their experiences of genetics to be clinically relevant, citing a narrow focus on rare disorders.
The result is a knowledge gap. Pediatric residents are expected to become fluent in the foundational practices of other medical subspecialties: they learn to interpret x-ray films, select antibiotics and treat common hematologic or gastrointestinal conditions. Yet residents falter when asked to describe universal metabolic newborn screening results to parents. Even trainees entering medical genetics residencies (about half of whom first trained in pediatrics) begin with a limited understanding of the physical exam skills and laboratory tests used in genetics.
Some medical schools have addressed these concerns through curriculum innovations such as a longitudinal approach focused on personalized medicine, or the mining of exome data from anatomy cadavers. Hopefully these efforts will help students see genetics as a dynamic and fulfilling field, beyond rote memorization of facts.
Geneticists are true family practitioners. Rather than teach trainees to memorize the names of syndromes or their chromosomal loci, we should begin with a discussion of the joy afforded by our relationships with families.
As Robert Marion, MD, writes in his book Genetics Rounds, “[We] support our patients both emotionally as well as physically…we provide care not only to the person with the disease but to the parents, the siblings, the grandparents and the extended family…[We] reassure them that nothing that they did caused or would have prevented the problem from occurring in the first place; we attend funerals, weddings, and graduations.”
Transforming genetics from a niche specialty into a highly popular field may seem like a long shot. But when Sir Arthur Conan Doyle struggled to find a publisher for his first Sherlock story, A Study In Scarlet, how unlikely it must have seemed that his eccentric detective would become one of the most recognizable fictional characters of all time.