Genomics: Shifting the Paradigm for Rare Diseases
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Transcript of Genomics: Shifting the Paradigm for Rare Diseases
Genomics: Shi-ing the Paradigm for Rare Diseases
Hannes Smarason Genome Sequencing |Personalized Medicine | Transforming Health Care
Genomics Holds Huge Poten<al Value for Rare Disease Diagnosis
• There are more than 7,000 rare diseases • Rare diseases can be chronic, progressive, debilita<ng, disabling, severe, and life-‐threatening
• Rare diseases affect nearly 1 in 10 people
Rare Diseases Trigger “Diagnos<c Odysseys”
• When a pa<ent presents with unusual symptoms, a costly scramble begins to diagnose the disease
• Pa<ents and their families are subjected to test a-er
test while being handed from one doctor to another, frequently necessita<ng travel to medical centers far from home
• Too o-en, this odyssey yields no clear diagnosis
or—worse—misdiagnosis
Genomics Offers a Game-‐Changing Solu<on • Approximately 80% of rare diseases are thought to have gene<c origins, according to US NIH
• Genomic sequencing, interpreta<on, and analysis decipher the gene<c evidence of rare diseases
• Diagnoses informed by genomics are bringing an end to diagnos<c odysseys
Bloomberg BusinessWeek Ar<cle Highlights Great Examples Jackie Smith, age 35 • From the age of 3, doctors could not find a diagnosis to account for Jackie’s weak limbs and turned-‐
in ankles. • Jackie’s parents were once told to “enjoy her while they could” because her disease “probably
would kill her before she was old enough to drive.” • Last February, using genomic interpreta<on and analyses from WuXi NextCODE, Claritas Genomics
defini<vely—and in less than three weeks—iden<fied her condi<on as centronuclear myopathy, a condi<on that primarily affects skeletal muscles
Dus<n Bennec, age 24 • Dus<n would tremble and jerk for hours or days at a <me and has been developmentally delayed
since childhood • Incorrect diagnosis le- family challenged, frustrated • A Mayo Clinic genomic-‐based analysis showed he suffers from episodic ataxia type I, a neurological
disease characterized by hours-‐long acacks with no clear trigger
Source: Cortez, Michelle “Si#ing DNA Databases for the Right Diagnosis”, September 10, 2015, Bloomberg BusinessWeek.
Genomics Brings Help, Value to Rare Disease Care
• Correct diagnosis with geneCc precision can end costly, frustraCng diagnosCc odyssey, helping paCents and adding value to the health care system broadly
• As powerfully expressed in Bloomberg BusinessWeek: While there isn’t yet a cure, Smith is par?cipa?ng in research that may one day lead to treatments or more suppor?ve care. “Just being connected feels good. I felt alone for a long ?me,” she says. “And I want to do it for the bigger picture, too. Not just for myself, but so I can be counted.”
Source: Cortez, Michelle “Si#ing DNA Databases for the Right Diagnosis”, September 10, 2015, Bloomberg BusinessWeek.