Ricki Lewis

Sep 22, 2014 8:15 AM EDT

Wow -- Hugh and Lisa, I think that it is courageous and also a role model to other parents, what you did for Bea. I am a medical journalist and alum of your college. Williams where I first took a genetics class and worked with Larry Vankin. As it happens, genetics comes into all our lives, when a parent dies or a child is born. How would you advise genetic counselors now?

- Claire Berman Blum

Sep 22, 2014 11:10 AM EDT

Address about what? See current entry about expanded genetic testing. We'll need many more genetic counselors. Thanks for writing.

- Ricki Lewis

Jan 16, 2012 3:59 AM EST

Thank you for explaining the difference. It is always a good feeling to learn something new--and possibly useful. No, I'll never be directly involved with genes (other than my own because I'm not that kind of doctor), but I might have misused the terms in a novel some day.
It is a pleasure to read an informative blog by someone who is passionate about what she does.

- Dixiane Hallaj

Jan 16, 2012 4:02 AM EST

Thank you Dixiane (I love your name!). I often feel like this blog is a black hole that no one sees, but it is great fun, allowing me to blab on about things that can't be said in a textbook. Thanks again! What kind of doc are you? What are your novels about?

- Ricki Lewis

Feb 09, 2012 8:12 AM EST

Yes, but what about folks who are allergic to peanuts...? Should they forgo strawberries too?

- rashmi

Feb 09, 2012 8:26 AM EST

Good question. A gene is a gene. So yes, if a peanut gene responsible for the allergy finds itself in a strawberry, then people who are allergic should avoid the altered strawberries - that is why labels may be important.

- Ricki Lewis

Oct 14, 2011 11:43 AM EDT

I think many of us in the field (of genetic counseling) have been waiting for the day of whole genome sequencing at a reasonable price. While it might not make sense for someone who is healthy and at population risk for cancer and other diseases, those that come for genetic counseling often have significant histories of early onset and often multisystem disease. It is no small feat to organize single gene genetic testing, given insurance constraints, and ever growing costs for co-payments and high deductibles. Any patient who tests negative or normal on the first run of testing then enters the world of follow-up genetic testing which is a confusing world of testing for genes of lower penetrance, variable onset, and uncertain significance. Not to mention the fact that such testing is often not readily covered by insurance. It makes more sense to opt for a test that is much more likely to offer an answer to the broad question of genetic risk which is what exome sequencing. Exome sequencing on a population level might be like looking for a needle in the haystack, but for the patients that I see for genetic counseling, if would be like looking for your cellphone in the haystack. Much easier to find when you know what you are looking for. I do think most patients would want to take advantage of whatever testing their insurances would cover first, but whole exome sequencing should be a consideration immediately afterwards, if initial testing provides no information.

- S. Bonnie Liebers

Oct 14, 2011 12:53 PM EDT

Thanks, Bonnie. I'm at the International Congress of Human Genetics right now, and exome sequencing is just around the corner. Much discussion has focused on the problem of what to do about incidentalomas -- when to report increased risks, and how to determine what degree of risk is sufficient to inform the patient? One thing is certain -- there aren't enough genetic counselors to handle a population that accepts whole exome sequencing.

- Ricki Lewis