Kiruna Stamell asks ‘why aren’t we genetically modifying people to be more like me?’

“The [UK] Royal Society of medicine is debating whether embryonic gene editing will improve the health of future generations. So is this the future of medicine? Or could it be the thin end of the wedge… the first step in the direction of designer babies.

Speaking against the motion is the actress Kiruna Stamell who has dwarfism. She thinks society should be working to make it easier for people to live with a disability and wonders why for global warming’s sake we aren’t gene editing people to be her size.” See the video.

NAS Publishes New Report on Gene Editing in Humans

“An influential science advisory group formed by the National Academy of Sciences and the National Academy of Medicine on Tuesday lent its support to a once-unthinkable proposition: clinical efforts to engineer humans with inheritable genetic traits.

In a report laden with caveats and notes of caution, the group endorsed the alteration of human eggs, sperm and embryos — but only to prevent babies from being born with genes known to cause serious diseases and disability, only when no “reasonable alternative” exists, and only when a plan is in place to track the effects of the procedure through multiple generations.” Read More.

Are We Ready For This?

Genetic counselor Robert Resta offers a critique of prenatal screening’s “mission creep” and lays out the things that should be in place–but aren’t–in order to support informed choices about prenatal screening.

The DNA Exchange

Recent advances in genetic testing technology have us poised on the brink of a new paradigm of prenatal diagnosis – prenatal screening for all genetic and chromosomal conditions. Okay, not all disorders, but lots. Non-invasive Prenatal Testing (NIPT), whole exome sequencing, and expanded carrier screening are close to being available and affordable to a large proportion of the population. This is the culmination of a trend that began with the introduction of amniocentesis in the late 1960s, followed by ultrasonography, maternal serum screening, microarrays, and cell free placental DNA in maternal serum. From a strictly technical standpoint, each technology, while far from perfect, was an improvement on its predecessors in terms of accuracy, detection, false positive rates, and the range of  detectable genetic conditions.

On the surface, this sounds like progress, and it is, in many ways. These technologies can contribute to the reduction of the incidence genetic conditions, some of which…

View original post 1,403 more words

PIRC Members Publish New Article on Conflict of Interest in Genetic Counseling

PIRC members Megan Allyse, Katie Stoll, and Marsha Michie co-authored a new article in Genetics in Medicine on conflicts of interest in genetic counselors who work for commercial laboratories that sell prenatal genetic tests.

“As an employee of the company, a genetic counselor has two interests: following practice guidelines and benefitting their employer. These two interests are not always in conflict, but the potential exists. And while commercial laboratories may highlight genetic counseling by a laboratory-provided genetic counselor as a value-added service benefitting patients, it may not always be obvious to patients that they are receiving genetic counseling from an employee of a genetic testing company.”

The article can be accessed here.

Bioethics proposal for prenatal whole genome sequencing raises lively debate

prenatal-genome-sequencing
Credit: Ernesto del Aguila III, NHGRI.

The latest issue of the American Journal of Bioethics includes a target article by Stephanie C. Chen and David T. Wasserman entitled, “A Framework for Unrestricted Prenatal Whole-Genome Sequencing: Respecting and Enhancing the Autonomy of Prospective Parents.” As you might imagine, several PIRC members were prompted to submit open peer commentaries in response, so PIRC is well-represented in this lively debate, as you can see: Continue reading Bioethics proposal for prenatal whole genome sequencing raises lively debate

Having a child with Down syndrome is less expensive than many think

A study published today in the American Journal of Medical Genetics Part A finds that out-of-pocket medical costs of having a child with Down syndrome average less than $100 a month over the first 18 years of life. The study compared both out-of-pocket and insurance-covered costs for children with Down syndrome and matched peers without Down syndrome and found that, over the first 18 years, the additional medical costs of having a child with Down syndrome averaged $18,248 for families and $230,043 for insurers.

ajmg
Figure 2, from Kageleiry A, Samuelson D, Duh MS, Lefebvre P, Campbell J, Skotko BG. 2016. Out-of-pocket medical costs and third-party healthcare costs for children with Down syndrome. Am J Med Genet Part A 9999A:1–11. DOI: 10.1002/ajmg.a.38050

The authors found that medical expenses were highest in the first year of life, when children with Down syndrome are most likely to need surgeries that require a hospital stay. However, the average additional cost to families is perhaps surprisingly low, given the perception that children with Down syndrome incur burdensome medical costs. “I think many people will be surprised to learn that parents have few extra medical expenses when raising a child or adolescent with Down syndrome, since health insurance covers most of the costs,” said Dr. Brian Skotko, director of the Massachusetts General Hospital (MGH) Down Syndrome Program and a co-author of the study, in a MGH press release. “I hope our findings can help families better prepare for their own financial futures.”

For more information about life with Down syndrome, see the MGH Down Syndrome Program website, or download free materials at lettercase.org.