Science & Solutions

It Takes a Village

Dr. David Kronn’s father used to say: “if we learn something new today, the day’s worthwhile.” Many medical geneticists in the U.S. spend their careers chasing curiosity and partnering with many healthcare providers to address rare disease patients’ needs.

In theory, being a medical geneticist is like being a detective. The goal is to piece together clues – which can be very difficult to discern – to try to make an accurate diagnosis and best help a patient. However, in practice, the difference between detective work and medical genetics is much greater. Medical genetics has experienced watershed changes over the past few decades led by better understanding of disease pathology, as well as the introduction of many new technologies leading to better outcomes. 

“Many of the patients come to us after they've seen everybody else – a true diagnostic odyssey of years or even decades for some – so we have to look at all the body systems to see if a clue to the diagnosis has been missed. With greater understanding of genetics, the diagnostic odyssey can be shortened to a few weeks.” explains Dr. Kronn. “In addition, with newborn screening available for certain conditions, we have the ability to know a diagnosis from infancy. An early diagnosis has the potential to make a world of difference for patient outcomes.” 

Since things change all the time in genetics, information once thought to be insignificant can become significant. By being willing to accept changes and stay up to date, a medical geneticist is taught to be anything but dogmatic. Curiosity is rewarded.

“Whenever new proof comes along, we always have to be willing to look into it. You always have to be willing to change your mind. This is the kind of thinking that has led to the discovery of new genes for rare diseases,” describes Dr. Kronn. “Just 30 years ago, the cystic fibrosis gene hadn’t even been discovered and since then, researchers have mapped the human genome and identified thousands of rare diseases. Genetics is a very dynamic field and it’s also a rewarding field because you can make a significant difference in people’s lives.”

One advance in the field of genetics, newborn screening, has also dramatically expanded. In the early 2000s, researchers and geneticists were just starting to understand the multitude of diseases that could be screened for at infancy.  

“Newborn screening continues to be expanded to test for many more disorders as treatments become available,” states Dr. Kronn. “The earlier we can diagnose a patient, the probability increases of a better long-term outcome.”

Despite the decades of fast-paced progress, it’s important to continue focusing on improving care, quality of life and long-term outcomes for people living with a rare disease. It will take a village to make a meaningful difference and medical geneticists play a key role. 

“Medical geneticists can be the ‘medical home’ for patients and partner with a range of specialties to try to ensure optimal, individualized patient care. We partner with nutritionists, physical therapists, pulmonologists, psychologists, local pediatricians, audiologists and even help with needed accommodations, translation or transportation needs. The soup-to-nuts approach to providing care can be quite complicated, but we should provide the whole gestalt to address every patient need,” notes Dr. Kronn. “It’s true that it takes a village to raise a child.”