Patients and genes: Getting personal through information technology

Not long ago I sat in a room with a young patient and her parents, struggling to devise a treatment that would slow down the growth of her aggressive tumor, which continued in spite of intensive chemotherapy. We knew that the tumor was distinct — it responded to certain combinations of chemotherapy but not others — but we knew little about what drove its growth, and less about how to target our treatment for cure.

While most patients with the common childhood lymphoblastic leukemia can today expect to be cured, progress for those with many rare types of tumors has been disappointing. Their rarity often hinders and sometimes prevents effective clinical trials. Patients are too few or too scattered for any one doctor or hospital, so testing new combinations of existing treatments usually takes decades. Discovery and development of new therapies for rare diseases can last a whole lifetime.

The same is true for many other rare childhood or adult diseases. Take Parkinson’s disease, a neurodegenerative disorder that causes loss of motor function and speech. A recently completed study to investigate a single genetic contribution required a tour-de-force collaboration among 16 hospitals, spread across five continents.

Since the genetic basis of Parkinson’s disease is multifactorial, many more studies like this will be needed. At this rate, they are likely to take many decades. But with advances in information technology — such as internet-based social networks and electronic medical records to connect distant patients and doctors — couldn’t we do this faster?

Spurred by personal interest, the founders of 23andMe, a privately held company providing genetic information directly to consumers, are rising to this challenge. They are uniting a 10,000+ person online social community in which they plan to carry out a genome-wide association study, seeking the many genes that contribute to the development of Parkinson’s disease.

Patients are joining briskly. If results follow suit, some of the genetic alterations discovered may prove to be targets for new drugs, and may even lead to ways to delay or prevent the onset of symptoms. The potential for good is great indeed.

There are also new challenges. Participants must be able to understand the study results, which will likely involve abstruse entities like single nucleotide polymorphisms. Some results may be unexpected, and will need to be communicated responsibly and meaningfully. For example, about 1 in 20 participants will learn that they have factor V Leiden trait, associated with increased risk of blood clots and strokes. Should they do anything differently?

Coriell Personalized Medicine Collaborative, Navigenics, deCODE, Knome and others are exploring similar approaches. Patients will increasingly be drawn to them, but will need to be able to translate this wealth of information into actionable plans — be they treatment for illnesses that ail them currently, or for potential conditions that may or may not materialize. The coming era of personalized medicine will require unprecedented patient advocacy and different ways of thinking about disease by doctors.

Investigators at Children’s Hospital Boston, drawing on the hospital’s diverse patient population, have begun an even more ambitious genetics cohort study called the Gene Partnership Project. The project plans to enroll 10,000 children and their families every year, who will be able to communicate securely with scientists, physicians, geneticists and ethicists who are part of the study. This aptly-termed “informed cohort” will receive recommendations about the study’s results interpreted by a multi-disciplinary team, including information on ways to treat current diseases or possibly prevent future ones.

The project’s even more ambitious goal is to understand the currently mysterious interaction between genetic predisposition towards disease, environmental exposure and lifestyle. Such a patient-centered approach is likely to lead to fundamental advances in our understanding of both rare conditions, like Kawasaki disease, and common ones, like autism.

What about my patients? Sometimes our dedication in searching for a treatment pays off; other times, we grieve with families. Nonetheless, the day when every patient and their newly diagnosed tumor can undergo complete genetic testing is very near. If we are able to connect patients, genes and their doctors, rare tumors will become far less mysterious, and treatments considerably more rational. And with this, the promise of personalized medicine — the ability to predict, prevent and definitively treat disease — could become a reality. Patients and doctors alike can barely wait.