Patient of the Future Featured at Scripps Genomics Conference

Carlsbad woman's dogged research proved physicians wrong

Scripps Health patient, Kim Goodsell, discovers a connection of her medical conditions through genetic testing.

When Kim Goodsell developed two seemingly unrelated rare conditions that threatened to derail her intensely active lifestyle, she thought the unlikely downturn had to be more than a coincidental roll of the dice.

Her doctors at the time, who were some of the best in the world in their fields, assured her that the heart arrhythmia requiring an implanted defibrillator, the hip deformation resulting in hip replacement and the worsening muscle weakness in her limbs were unrelated.

But Goodsell knew better and began a years long search of publicly available genomics data. The effort led to her discovery of a single DNA mutation that could be linked to all of her problems.

Goodsell, who now lives in Carlsbad and is a Scripps Health patient, recently told her remarkable story at the Future of Genomic Medicine, an annual educational gathering of the nation’s leading genetics experts put on in La Jolla by the Scripps Translational Science Institute.

Scripps cardiologist and STSI Director Eric Topol, MD, called Goodsell a prime example of the “empowered patient,” who uses the vast resources available through the Internet and personal health sensors to divine his or her medical condition even to the discomfort of their own physicians.

“As a physician, I’ve never met a patient like her,” said Dr. Topol in a Medscape article.

“I was looking for a unified field theory,” Goodsell said in a U-T San Diego report about the conference.

Along the way, she and her husband also managed to create a new prototype walker — called the Rova — with larger off-road wheels and baskets that provide increased stability and function for more active use.

In a National Post article about the conference, James Aw, MD, wrote that Goodsell is the type of “activist patient” who is changing the way physicians practice medicine.

Goodsell is “someone who regards her health as a collaboration between herself and her doctor,” according to Aw.

Read the U-T San Diego article: The Patient from the Future, Here Today

Read the National Post article: Patients Who Question their Doctors are Changing the Face of Medicine

Read the Medscape article: Patient Cracks Her Own Mysterious Dual Diagnosis

Media Contact

Keith Darce

Related tags: