Genetic Testing on Wednesday's Access Utah

Apr 16, 2014

The $1,000 genome has long been considered a milestone—the price at which sequencing can finally go mainstream. Companies such as 23andMe provide inexpensive consumer tests that examine about half a million points of a person’s DNA sequence.  But until now investigating all 3 billion base pairs that make up a human’s genome cost $10,000 or more.


 Now, Illumina’s machine, for example, will sequence your entire genome for $1,000. Genetic testing has rapidly improved the diagnosis and treatment of diseases such as Huntington's, cystic fibrosis, breast cancer, and Alzheimer's. And advances in genetic technologies increasingly allow us to explore our personal genetic make-up in great detail, understand risks to our health, and provide new opportunities to improve our health. On the other hand, our society has a dark history of stigma and discrimination from the misunderstanding and misuse of genetic information. And this new knowledge brings with it difficult questions: Should I get tested? Do I want to know about my susceptibility to particular disorders? What do I do with the results? What about biobanking, newborn screening, and prenatal diagnosis? Will my results be kept private? How will this affect my health insurance? Those choosing to get tested must decide how to view and understand themselves and their genetics. Our guests are Jeffrey Botkin, University of Utah Professor of Pediatrics, Adjunct Professor of Human Genetics, Chief of the Division of Medical Ethics and Humanities, and Vice President for Research Integrity; and Robert Klitzman, Columbia University Professor of Psychiatry, Director of the Masters of Bioethics Program, and author of “Am I My Genes?: Confronting Fate and Family Secrets in the Age of Genetic Testing.”