Modifier Genes vs. Susceptibility Genes

The identification of gene modifiers may improve our ability to understand differences in the severity of disease.  Having such information may help guide decisions about therapy, for both patients and doctors.  The outcomes of a search for gene modifiers for cystic fibrosis are described by one of the authors:

"There are likely a number of gene modifiers in CF and other diseases, and this current paper describes one of the first robust examples," [Michael] Knowles said. "Some CF patients may do worse because of ’severe inflammation’ genes, whereas others may do worse because of differences in mucus genes. Still others might because of their growth and metabolism genes, etc… Thus, therapy might need to be targeted to a particular area or areas in individual patients. This is important not only for CF, but for other lung diseases as well because gene modifiers we discover in CF will be seen in other diseases, and there are already examples of that."

An editorial accompanying the article in the New England Journal of Medicine describes how modifier genes are different from susceptibility genes:

"Susceptibility genes and modifier genes are two biologic phenomena that few clinicians should ignore in the genome era. Susceptibility genes, which are genes with functional variants that affect the causes of disease, are routinely being identified for simple mendelian diseases and, more recently, for common genetic disorders. Modifier genes are distinct from susceptibility genes, in that they are genetic variants that affect the clinical manifestation of disease (as opposed to liability)…The identification of gene modifiers and their interactions in cystic fibrosis and other diseases has only just begun."

Christina K. Haston and Thomas J. Hudson. "Finding Genetic Modifiers of Cystic Fibrosis" NEJM 353(14)1509-1511. October 6, 2005. (sorry subscribers only)

Drumm et al. "Genetic Modifiers of Lung Disease in Cystic Fibrosis" NEJM 353(14)1443-1453. October 6, 2005. (sorry subscribers only)

Personal Digital Doctor

"Ideally, a patient with an incurable, life-threatening disease such as diabetes would take critical medical measurements at home each day, and immediately get advice from his or her doctor. While that remains impractical, new hope is on the horizon for digital monitoring systems that will help to fill this yawning gap—and to provide clues to each patient’s treatment that no doctor could ever gather manually. This summer, Joslin will partner with Boston startup InterMed Advisors on a trial of one such alternative—a soup-to-nuts home monitoring system for diabetes patients. The InterMed project will combine patient education, daily in-home monitoring of blood glucose levels, and advanced analysis of the wealth of resulting data. It will also alert clinical staff as needed, and provide patients with daily, individualized feedback."

Eric Bender, Your Daily Digital Doctor, Technology Review, Feb 20 2004.

7 Trends in 2 Newsletters

Disease Management News, a subscription based newsletter (here), recently published an article describing 7 key trends in disease management in 2004.  The article has been reprinted (pdf) at the Better Health Technologies webpage.  Here are the seven trends:

1) Cost Management Will Continue to Be the Primary Driver of DM Technology Adoption
2) Predictive Modeling Technologies Will Focus on “Impactability”
3) Information and Communication Technologies Will Enable DM Assembling as a Viable Business Strategy
4) Consumer Electronics Giants Will Bring DM into the Living Room
5) Remote Patient Monitoring and Wireless Technologies Will Enable “Healthcare Unbound”
6) Personalization Technologies Will Allow Patients to “Have It Your Way”
7) The Electronic Health Record Will Break From the Pack

Thanks to Matthew Holt for the pointer.

Disease Management

Mark Hagland, Arrested Development: Early medical management improves the outcome of diseases, even chronic ones. Healthcare Informatics, November 2003.

"[Many] are aware of the challenges ahead for managed healthcare as the incidence of chronic illness continues to rise, taking utilization and costs with it. They also know that they need to use IT-powered medical management strategies, including disease management, to improve the health of plan members and cut costs by intervening earlier, better and smarter."