by Sachi Badola
What does genetics mean to me?
Taking a step back into my seventh-grade life science class, we discussed the concepts of heredity. Genes, alleles, the structure of DNA. The one and only Gregor Mendel and his pea plants. The foundational knowledge of genetics. Freshman year, we dove deeper into the concept of protein synthesis. How does the central dogma allow genetic information to pass from DNA to RNA to protein? Sophomore year, we continued our investigation of genetics in AP Biology. Genetic diseases, chromosomal abnormalities, Punnett square analysis. …
by Cathelijne van der Wouden
Pharmacists-in-training don’t usually get involved in genomics research. As graduate students in a PharmD program at Utrecht University in The Netherlands, my peers and I were on the way to becoming pharmacists. Our program only covered basic genomics, since — at least traditionally — genomics is not considered essential knowledge for pharmacists. But I was intrigued to learn why certain patients respond differently to the same drug regimen, and the most fundamental way to describe human variation is through genomics.
Driven by this curiosity, I reached out to the Genomes2People Research Program (G2P) in the…
Race is a social construct, but representation matters in genetic studies — and on that front, we have a long way to go. By Tala Berro
By Tala Berro
I am a Palestinian American. On the census, under the racial category, I am instructed to mark the box labeled “white.” Why am I classified as white? On doing a deeper dive about this, I found out that the older Arab generations wanted this classification in order to better assimilate. This did help many lighter-skinned Arabs to assimilate, yet there is still a history of people from SWANA (Southwest Asia, North…
By Elizabeth Fieg
Genetic testing is more accessible than ever, thanks to an increase in public awareness and the continuously decreasing costs of genetic sequencing. Genetic information is being used to diagnose rare disorders, develop targeted and novel therapies, facilitate reproductive planning, guide treatment decisions, and inform people of their risk to develop certain medical problems. The decision of whether or not to pursue genetic testing can be complex and difficult, and many people benefit from meeting with a genetic counselor to understand the benefits and limitations of their options.
Let’s say it was possible to buy your health by the day. How much would you be willing to pay for each year of perfect health? What if you could buy years of health for your loved ones, too? At what price point would you draw the line?
This sort of difficult calculus, on a much larger and chronologically longer scale, underpins many decisions we make in medicine — not just decisions that we make as patients, but also the decisions that are made for us by employers, health insurance funders and policymakers. We don’t…
If you’re an apparently healthy person who wants to learn about your genetic disease risks, you can send a saliva sample and a hundred bucks or so to an array-based direct-to-consumer genetic testing company and get some trait information and selected health risks, plus details about your genetic ancestry. But as the direct-to-consumer (DTC) companies themselves will tell you, this is only a fraction of the medical value that may be hidden in your genome. …
Continuous new discoveries about the genome make updates important.
Learn more about The MedSeq Project.
by Robert C. Green
The doctor hands you a report. Your genome has just been sequenced and analyzed, and this report tells you about several potential medical issues you should be paying attention to, based on what variants turned up in your genome. Now you can move forward with this knowledge, taking actions if necessary, and put the whole genome sequencing thing behind you. Right?
Not exactly. If those same genome sequencing results are re-analyzed in two years, or even in six months, it is…
When a newborn’s genome is sequenced, should some results be withheld?
Learn more about the BabySeq Project.
By Robert C. Green
If genome sequencing can warn us of future disease risks, allowing the opportunity for intervention before symptoms appear, it stands to reason that the earlier you obtain it, the more you will benefit. And if earlier is better, wouldn’t newborn genome sequencing make sense?
It very well might. A simple “heel stick” newborn genetic screening test, covering over 30 conditions, is already required by law in the U.S. and many other countries. Genome sequencing goes much further, searching for…
Parents and clinicians have their own ideas about newborn genome sequencing.
By Robert C. Green
The procedure is the same for nearly every baby born in the United States: in the first 24 hours after birth, before going home from the hospital, a nurse pricks the newborn’s heel, collecting a few drops of blood on a piece of filter paper. The tiny blood samples go to a state laboratory, which performs a series of biochemical tests and informs the child’s pediatrician of any abnormal results which can then be confirmed through additional testing. …
by Scott D. Crawford, MA; Shawn Fayer, MSc, MS; and Robert C. Green, MD, MPH
This is the fifth in a five-part series that considers recent FDA actions on issues related to direct-to-consumer (DTC) genetic testing. The original posts appeared on the SoundRocket LaunchPad blog. Read Part 1 of the series here, Part 2 here, Part 3 here, and Part 4 here.
Commentary: Final Thoughts
Over the course of this week, we have covered a variety of related topics that arose from the recent FDA activity around direct-to-consumer (DTC) genetic testing. Because this is so new, much is yet unknown…