Family Trio Sequencing – Genetic Clues in Autism

This is a guest blog post written by KT Pickard (@kthomaspickard) and Kimberly Pickard (@kimberlypickard), Co-founders of StartCodon.

Amazingly, the cost of whole genome sequencing is now 100,000 times less expensive than it was a dozen years ago. If the Tesla Model S followed this trajectory, you could buy one today for less than $1 USD. This super logarithmic decline puts genomics on par with desktop publishing or 3D printing—it has become something that you can affordably do yourself. My wife, Kimberly, and I were excited about the prospect of having our genomes sequenced. Our daughter has autism, and like many parents of special needs children, we were eager to explore the underlying causes of her condition. We “got genomed” last year by enrolling in Illumina’s Understand Your Genome program. We received our whole genome sequencing (WGS) data, as well as limited predisposition and carrier screening for a number of Mendelian traits. As many DNAdigest readers know, the cost of WGS continues to drop in price, almost to the $1,000 genome that Illumina announced last year. Kimberly and I were intrigued to learn that we were both carriers of some rare genetic variants. Could our genetic idiosyncrasies be contributing to our daughter’s autism?

Pickard family

KT Pickard and Kimberly

After being sequenced, I followed the lead of DNAdigest contributor Manuel Corpas and posted my whole genome sequence online. I decided to publish my genome without restrictions in an attempt to lead by example. In the future, we hope that platforms like Repositive will make it easier for consumers to share genomic information and maintain privacy.

Kimberly and I recently launched a project on experiment.com to crowd fund the whole genome sequencing of our adult-aged daughter. In this project, we will look for genetic clues to her autism using family trio sequencing. Family trio sequencing is a powerful technique that can explain genetic conditions by looking at differences in DNA between Mom, Dad and an affected child. We were thrilled when the sequencing project was funded the first day. In the process, we received feedback from other parents who wanted to learn more about the technique, so we added a stretch goal to cover publishing costs in an open access journal. The research paper will document our findings, as well as explain how family trio sequencing can be used to search for answers to health conditions and rare diseases. Information sharing can indeed be very personal, but we find the possibility of catalyzing new areas of health research compelling. With this project, we hope to find clues that will contribute, if only in a small way, to a growing body of genomics research that supports a broader explanation of autism.

Note: You can make a differencewe are still short of our stretch goal to fund open access publishing costs. Please consider a small donation to fund this open access project to search for genetic clues in autism.

About the Authors K. Thomas Pickard (KT) is a medical imaging veteran with 20 years of healthcare experience. His career includes six early-stage startups, including leadership roles at Lexmark Healthcare, Emageon, eMed Technologies and Thinking Machines. In 2013, he co-founded StartCodon, a nonprofit promoting neurodiversity in biotechnology and life sciences. His work in personal genomics also includes research in consumer-directed health information sharing. He blogs about genomics, health information sharing and open science at genomedad.com. Kimberly Pickard comes from a diverse background in theoretical mathematics, scientific computing and fine arts. Recently, she has directed her efforts toward finding genetic clues for those with autism spectrum conditions and co-founded StartCodon in 2013 to promote neurodiversity in the workplace.

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1 Response

  1. April 22, 2015

    […] entry was cross-posted from DNAdigest on April 22, […]

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