CBIA BizCast: Benefits of Whole Genome Sequencing

Issues & Policies
It’s critically important to diagnose these newborns as quick as you can to figure out what’s going on and prevent a lifetime of impairment,” says Alexion’s Dr. Tom Defay.

This episode of the CBIA BizCast is the first of a two-part discussion on a key issue in Connecticut and across the country—whole genome sequencing. In this episode Paul Pescatello, CBIA senior counsel and executive director of the Connecticut Bioscience Growth Council speaks with Dr. Tom Defay.

Defay is a computational biologist and deputy head of diagnostics strategy and development at New Haven-based Alexion Pharmaceuticals, Inc. He details how the technology is valuable to patients for early diagnosis and treatment, and a cost saver for our healthcare system.

In part two, Pescatello will dive deeper into how this technology is being used in a clinical setting with Connecticut Children’s Hospital doctors Adam Matson and Louisa Kalsner.

This legislative session a bill promoting the expansion of whole genome sequencing, HB 5367, An Act Concerning Medicaid Coverage of Rapid Whole Genome Sequencing for Critically Ill Patients, is before the Connecticut General Assembly.

This is important legislation and it is strongly supported by the CBIA Bioscience Growth Council

The bill harnesses cutting-edge technology to improve disease diagnosis, treatment, and management, and makes our healthcare system more efficient.

Blueprint of Life

A genome is the complete set of all the information contained in a person’s 20,000-25,000 genes. 

Genes, in turn, are made up of varying combinations of the four chemicals that make up your DNA. There are three billion–billion–different combinations. 

Your genes and the three billion different combinations of DNA that make up your genes are the recipe, the code, the blueprint of life. 

Whole genome sequencing is a way for researchers and doctors to “see” a person’s genes.

A person’s genome contains all the information needed for a person to develop and grow.

You might recall from a high school or college science course that you inherit half your genome from each of your parents.

Whole genome sequencing is a way for researchers and doctors to “see” a person’s genes and identify variations that lead to different traits, such as hair color or height, and mutations that could lead to disease.

Gold Standard

Whole genome sequencing has become the gold standard in diagnosis of disease. 

Especially for rare diseases, where before whole genome sequencing, diagnosis could take upwards of five yearsand more than 40% of rare disease patients are initially misdiagnosedwhole genome sequencing reduces that timeframe to a few weeks. 

The latest technology, rapid whole genome sequencing, brings that timeframe down to as few as 48 hours.

If the infant’s condition cannot be identified, it cannot be treated effectively.

Rapid whole genome sequencing is a targeted tool that solves a critical diagnostic problem facing newborns, their parents and caregivers, and their treating medical professionals: soon after birth, a newborn can present with a troubling set of medical symptoms for which no standard test or the treating medical team’s clinical experience can provide a definitive diagnosis. 

Time is often very much of the essence—if the infant’s condition cannot be identified, it cannot be treated effectively.

If it cannot be treated quickly, the malady left unaddressed, the disease or condition will take its course, which can lead to irreparable damage to organs, or death.

Providing Answers

Rapid whole genome sequencing is a means to provide desperately needed answers in such dire circumstances.

The rare disease diagnostic odyssey is not only debilitating, exhausting and frustrating for patients and their families, it is extremely costly and inefficient for the healthcare systems.

Whole genome sequencing replaces a multitude of blood and tissue tests, physical examinations by an array of specialists and multiple hospitalizations with a single, definitive genetic test.

The genome sequencing legislation before the Connecticut General Assembly would facilitate whole genome sequencing but is not a license to use rapid whole genome sequencing without regard to medical necessity. 

It is targeted for use only in infants and only when three conditions are met: 

  1. An infant’s symptoms must suggest that diagnosis would otherwise require multiple non-rapid whole genome sequencing tests
  2. The treating healthcare team must provide written documentation that rapid whole genome sequencing is necessary to guide treatment
  3. The infant has “a complex or acute illness of unknown etiology.”

HB 5367 is smart healthcarecost effective and cost saving for our healthcare system. And a hugely impactful advance for rare disease patients.

Paul Pescatello is the executive director of CBIA’s Bioscience Growth Council and chair of We Work for Health Connecticut. Follow him on Twitter @CTBio.

The CBIA BizCast is made possible through the generous support of Google. Please rate, review, and subscribe to the BizCast wherever you get your podcasts—we appreciate your support! If you have a story to tell, contact Amanda Marlow.


1 thought on “CBIA BizCast: Benefits of Whole Genome Sequencing”

  1. Michelle laviana says:

    Can you have this done for adults too, concerned patient.


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