Mapping your genetic code

August 18, 2011 (CHICAGO)

Sister and brother Heather and Logan Madsen have both been diagnosed with an extremely rare disorder that causes face and limb malformation called Miller syndrome.

Both their parents are healthy. They are the first family in the world to have their entire genetic code sequenced. Now, they know for sure their problems are genetic.

"It's given us peace," said mother Debbie Jorde. "It's given us answers."

Dr. Lynn Jorde, Debbie's husband and Heather and Logan's stepfather, is the human genetics chair at the University of Utah.

He started the family's trailblazing journey with many other scientists. They pinpointed the recessive genes from each parent that caused the children's disease - what Dr. Jorde says is often the first step toward finding a cure.

"You can't really figure out how to fix something until you know what's really broken," said Dr. Jorde.

At the University of Chicago, doctors are taking a different approach when it comes to mapping genes.

"We are looking at common variants and the impact of common variants on the entire population," said Dr. Mark Ratain, a medical oncologist at University of Chicago Medical Center.

Cancer, heart disease, high blood pressure and other disorders are common problems that affect millions of Americans, but we all deal with them differently.

Why does one medication work for one patient but not the other? That's where the University of Chicago's 1,200-patient project could help.

"The goal is to try to bring pharmacogenomics, which is your genetics and how it relates to drug response or drug side effects, into clinical practice," said Dr. Peter O'Donnell, a medical oncologist at University of Chicago Medical Center.

O'Donnell and Ratain's study will determine whether genetic testing should become part of routine clinical practice for patients with any type of disease. It involves a routine blood test that could later be used if a patient develops medical problems.

"There are many drugs that are used by a large number of patients, such as statin drugs, where a patient's risk of side effects, for example, can be predicted before they start the drug," said Ratain.

"Right now, doctors treat the same disease all with the same medicines, and so we want to say, will they actually treat their individual patient based on whether that individual medication is right for them?" said O'Donnell.

The University of Chicago doctors say a lot of these genetic tests are not new, but physicians are not routinely ordering them.

Their goal is to create a center where one person's individual genetic makeup is the rule and not the exception to medical treatment.

The 1,200-patient project is still open for enrollment. Doctors say if their study finds routine genetic testing for treatment is beneficial, their hope is that one day all patients will be part of a similar program.

Dr. Ratain's web page

Dr. O'Donnell's web page

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