130 Rapid Whole Genome Sequencing: Unlocking a Puzzle

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The medical world is accomplishing great things; for example - Rapid Whole Genome Sequencing. A cutting-edge concept that has cut diagnoses of rare diseases from weeks and months to days and hours. It’s called Project Baby Deer and it’s focused on implementing evidence-based precision medicine and pediatrics to facilitate rapid whole genome sequencing for sick inpatients, neonates and children across the state. The project was born out of a collaboration between Dr. Caleb Bupp, Dr. Andrea Scheurer and Dr. Joseph Fakhoury. Your host, Dr. Lia Gaggino talks with these 3 clinicians about this groundbreaking initiative that is helping to provide better care for children across the state. If you know someone who is in medical school, you’ll need to share this episode with them.

[00:33 -28:07] Intros / What is Rapid Whole Genome Sequencing?

• Michigan’s “Baby Deer” project was designed after California’s “Baby Bear” project.
• The genetic code is made up of billions of adenine (A), cytosine (C), guanine (G) and thymine (T)
• Variations in the code is what makes us unique.
• In the past, sequencing was expensive and slow, but technology has made it faster and cheaper.
• Entire genetic code can be sequenced in hours with accurate results.

[28:08- 35:40] Benefits of Genetic Testing for Children

• Genetic testing can provide important information about a child’s risk of developing a particular health condition in the future.
• Genetic testing is faster and cheaper than ever before.
• Genetic testing can help reduce the cost of care by providing more accurate diagnoses and treatments.
• It can also help identify inherited traits and conditions that could affect a child’s health.
• Knowing the cause of a medical issue helps make better decisions on how to treat it

[35:41 -46:04] The Benefits of Collaboration

• Bronson and DeVos hospitals collaborated to develop a comprehensive consent process, as well as a system for sharing and analyzing the data.
• The two hospitals have also developed a system for follow-up care, ensuring that any positive results are followed up on and that any negative results are discussed with the family.
• The collaboration between Bronson and DeVos has made rapid WGS accessible to more families and has helped to improve the quality of care for those families.
• Although the cost is a main barrier to expansion, the collaboration between the two hospitals will provide rapid WGS to patients in need.

[46:05 - 1:02:49] What is Rare Disease Day?

• Rare Disease Day is the last day of February, the rarest day of the year.
• It is a day to raise awareness and hope for the 300 million people worldwide who live with a rare disease.
• It is a day to highlight the need for research, support, and advocacy for these diseases.
• It has been happening every year since 2008.

[1:02:50 - 1:08:48] Closing segment Takeaway.

You can reach Dr. Joseph Fakhoury

Facebook: Joe Fakhoury | Facebook

Instagram: @jfakhoury.515

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