Ask Stanford Med: Genetics chair taking questions on gene sequencing and personalized medicine
For nearly a year and a half, Michael Snyder, PhD, and his lab members scrutinized some of his body’s most intimate secrets: the sequence of his DNA, the RNA and proteins produced by his cells, the metabolites and signaling molecules flowing through his blood.
They discovered, in a shocking development, that he was predisposed to type-2 diabetes and then watched as the condition developed. As a result, Snyder changed his diet and exercise habits and was able to bring the disease under control, long before it would have ever been diagnosed with traditional methods.
The results (subscription required) of the unprecedented analysis were reported earlier this year in Cell. The findings represent a significant milestone in the realization of the promise of truly personalized medicine, or tailoring health care to an individual’s circumstances.
For this round of Ask Stanford Med, we’ve asked Snyder to respond to your questions about how his study may help the advancement of personalized medicine and about the use of gene sequencing to guide preventative medicine.
Questions can be submitted to Snyder by either sending a tweet that includes the hashtag #AskSUMed or posting your question in the comments section below. We’ll collect questions until this Friday (July 20) at 5 pm.
When submitting questions, please abide by the following ground rules:
- Stay on topic
- Be respectful to the person answering your questions
- Be respectful to one another in submitting questions
- Do not monopolize the conversation or post the same question repeatedly
- Kindly ignore disrespectful or off topic comments
- Know that Twitter handles and/or names may be used in the responses
Snyder will respond to a selection of the questions submitted, but not all of them, in a future entry on Scope.
Finally - and you may have already guessed this - an answer to any question submitted as part of this feature is meant to offer medical information, not medical advice. These answers are not a basis for any action or inaction, and they’re also not meant to replace the evaluation and determination of your doctor, who will address your specific medical needs and can make a diagnosis and give you the appropriate care.
Previously: How genome testing can help guide preventative medicine, Stanford geneticist to discuss future of personalized medicine in live Science chat and ‘Omics’ profiling coming soon to a doctor’s office near you?
Photo by Wellcome Library
July 16th, 2012 at 4:14 pm
I would like to know how epigenetics play a role in gene testing?
July 16th, 2012 at 4:20 pm
Currently, the idea of personalized medicine seems to serve only a few; how do you think the world must adapt in order to offer such level of care to larger amounts of people? Is it possible for everyone to receive such customized care, or will this only be a privilege for those endowed with better financial situations?
July 18th, 2012 at 12:10 pm
Dr. Snyder: If you hadn’t been studying your own genome, how long do you think it would have taken you to discover you were diabetic? How would this difference have impacted your life and health?
July 18th, 2012 at 12:15 pm
Dear Dr. Snyder,
Thank you for answering questions on this important topic. I have 3 questions:
1. With respect to pregnancies with Rh negative mothers, how likely do you think blood-typing the fetus via fetal gene sequencing (either from amniotic fluid or maternal blood samples a la Quake) is to replace the current practice of late-term prophylactic administration of Rhogam? (in 50% of those pregnancies)
2. What information is obtainable with amniocentesis vs. fetal gene sequencing via maternal blood samples, and is the confidence comparable (accuracy/precision?)
3. Given the many potential benefits to gene sequencing, what do you consider the most significant potential risk and the best response to that risk?
July 18th, 2012 at 12:19 pm
I guess it’s more like 75% of those pregnancies with an Rh positive father… (++ +- -+)
July 18th, 2012 at 7:31 pm
Dr. Snyder,
It has been widely reported that the cost of sequencing has plummeted in the past few years, and it’s expect to become more cost effective. It seems the more difficult task is analyzing the content of genomes to better understand human disease and the health risks of patients. Other than the cost of genome sequencing, what advances in research or changes to the healthcare system are necessary for this practice to be useful in making medical decision in the clinical setting?
July 19th, 2012 at 1:43 pm
Dr. Snyder,
What are your thoughts a recent study from Johns Hopkins that found whole genome sequencing “fails to provide informative guidance to most people about their risk for most common diseases, and warned against complacency born of negative genome test results.” https://www.newswise.com/articles/whole-genome-sequencing-not-informative-for-all-johns-hopkins-study-shows