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November 16th, 2015

Diagnosing Rare Diseases Through Individualized Medicine

By Jeff Briggs

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Many of the patients referred to Mayo Clinic’s Individualized Medicine Clinic have been on a diagnostic odyssey that can make navigating a maze seem simple. They have experienced a protracted and arduous journey of questions, uncertainties, and fear to find answers about rare medical conditions they suffer from.

For some people this frustrating and scary lack of diagnosis and care can go on for years. Twenty-five percent of patients on a diagnostic odyssey identified a gap of five to 30 years between getting their first symptoms and receiving a diagnosis. For Stacy Carlson, whose story we told here a few weeks ago, it took 36 years before Andrew Engel, M.D., whose work at Mayo Clinic has focused on neuromuscular disorders, diagnosed Stacy with congenital myasthenic syndrome.

Another case involved a young patient who had been treated for depression unsuccessfully and who had suffered extensive side effects until he arrived at Mayo. The patient’s mother said that Mayo seemed like their last resort after 16 years of difficulties with medications. Within two months, Mayo deciphered his needs through an individualized medicine approach, which recognizes that the same medications can have varying results and cause different side effects in different people, she said. Through power of pharmacogenomics, physicians tailored his medications and dosages to achieve the best results, making a significant difference for this patient.

Sometimes, doctors have overlooked a common disease that just manifests oddly. But often, the patient has a rare disease their doctors have never heard of, let alone seen. And really, rare diseases, cumulatively, aren’t so rare. About 25 million people in the U.S. suffer from a rare disease.

With advancements in genome sequencing more patients are finding their answers to their diagnostic dilemmas. Some are finding lifesaving treatments. Others, like Dustin Bennett, regain the chance to live a normal life.

In the not-so-distant future, whole-genome sequencing — determining your entire unique DNA makeup in the laboratory — will be as routine as X-rays and cholesterol testing. Improving patient care by turning genomic research into real-world personalized medicine applications, particularly new and better genomics-based diagnostic tests, is one of the goals here at the Center for Individualized Medicine. Mayo Clinic's culture of collaboration and research allows the physician to be able to quickly and effectively search a patient’s genetic code for clues that help diagnose and optimally treat the condition.

Here is an in-depth look at the Center for Individualized Medicine’s work diagnosing rare diseases through the eyes of both providers and patients.

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Tags: center for individualized medicine, diagnostic odyssey, Dr. Andrew Engel, Dustin Bennett, individualized medicine, Individualized Medicine Clinic, Precision Medicine, rare disease, Stacy Carlson, Uncategorized, whole genome sequencing

Comment


CandySwift
@CandySwift

Posts: 1
Joined: Dec 03, 2015
Posted by @CandySwift, Dec 3, 2015

Genome sequencing is the most efficient tool in diagnosing rare diseases, but it is not commonly used in clinics. It is another situation for newborn babies. For 51 years, newborn babies have gotten a heel-prick test in which their blood is screened for dozens of congenital diseases. Routine newborn baby screening has basically eliminated the risk of death or irreversible brain damage that some of these disorders can pose if they are not identified right away.

In the USA, a plan known as “BabySeq Project” is undergoing with opportunities and challenges. This plan not only expands the sequencing market, but accompanies one’s whole life since the day of his/her birth. As a guide to new life, BabySeq Project focuses on preventing and curing diseases so as to improve human’s life.

Source: http://www.creative-biolabs.com/blog/index.php/should-babies-have-their-genes-sequenced-for-early-recognition-of-diseases.


MonicaCollins
@MonicaCollins

Posts: 1
Joined: Dec 07, 2015
Posted by @MonicaCollins, Dec 7, 2015

Custom diagnosis and individual medication will be the development direction of next generation diagnosis and treatment, for which the pattern of drug design ( http://www.bocsci.com/Drug-design.html )may be changed accordingly.

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