Ricki Lewis

The day is coming when every newborn will have her or his genome sequenced, providing a personal health database for life. But will this ability to stay ahead of sickness compromise genetic privacy?

 

Initial findings of the ongoing BabySeq pilot project reported in January 2019 in The American Journal of Human Genetics demonstrate the power of genomics in predicting and preventing illness.

 

The National Institutes of Health unveiled BabySeq in 2013 with a news release, "NIH Seeks Proposals to Study Genomic Sequencing in Newborn Period." Using "genomic" instead of "genome" allows wiggle room to count kids who've had only their exomes sequenced, the 2 percent or so of the genome that encodes proteins – the parts most often implicated in disease. (The consumer DNA testing companies use far less information, typically a smattering of 750,000 or so SNP markers across the genome.)

 

The BabySeq "initiative will help us better understand how we can appropriately use this information to improve health and prevent disease in infants and children," said Eric Green, director of the National Human Genome Research Institute at the beginning.

 

The project is off to a great start. But if history provides a lesson, routine newborn genomic sequencing won't come without a fight, or at least objections.

 

To continue reading go to Genetic Literacy Project, where this post first appeared.

On January 22, the World Health Organization declared anti-vaxxers a "Top Threat to Global Health in 2019." The agency specified "vaccine hesitancy" as the "reluctance or refusal to vaccinate despite the availability." It's the first time that vaccines have made the agency's list of the top ten biggest threats to global health.

 

Might it be time for President Trump to stop tweeting about the long-defunct link between vaccines and autism?

 

An Almost-Vanquished Childhood Disease

 

I had the measles when I was four, with its characteristic fever and spots, for an entire month. My sister got a vaccine. She shrieked at the two shots, but she became a teacher so I think in retrospect she'd agree it was worth it.

 

Before the measles vaccine became available in 1963, epidemics in the US cycled every 2 or 3 years, with 3 to 4 million cases a year, and on average 450 deaths. Before that time, half or more of an elementary school classroom could be vacant as the highly contagious disease swept through. Nearly everyone had had measles by age 15.

 

Measles was eliminated from the U.S. in 2000. But now it's back. This week the CDC reports outbreaks in 10 states, with 101 cases already for 2019. And it's only February.

 

To continue reading go to DNA Science, my weekly blog at Public Library of Science, where this post first appeared.

"Once upon a time, in a cave in the Altai Mountains of southern Siberia, different types of ancient peoples were having sex," I wrote last year in "The Cave Where It Happened: the Daughter of a Neanderthal Mom and a Denisovan Dad."

 

That long-ago admixture, plus other episodes, is why some of us have echoes of Neanderthal and Denisovan genomes in our DNA today. It's why some people learn from consumer genetic testing that 4% of their ancestors were Neanderthal. (Not the oft-claimed 3 or 4% of a genome, given that we share 98% of our genomes with chimpanzees.)

 

A new paper in Science Advances from the Baboon Genome Analysis Consortium provides a compelling possible view of our own prehistory, exploring genetic relationships among the six living species of genus Papio, the baboon. The animals maintain the traits that we say make them distinct species, differing in shape, size, and behavior, yet when members of different species meet, in geographical "hybrid zones," sometimes they indeed swap genes.

 

Have sex, that is.

 

To continue reading go to DNA Science, my weekly blog for Public Library of Science, where this post first appeared.

 

 

Google "CRISPR" and headlines touting "designer babies," "human rights," and "bioethics" are more likely to come up than descriptions of how researchers are actually using the powerful new technology.

 

Initial public outcry over a novel medical technology isn't anything new: vaccines, transfusions, transplants, recombinant DNA, in vitro fertilization, preimplantation genetic diagnosis, GMOs, gene therapy – the list is long.

 

But genome editing, using tools such as CRISPR, seems to have struck a public nerve in a more profound way, largely because of the reported rush to tinkering with human fertilized ova, fertilized ova, an intervention that would alter the genomes of future generations.

 

But what does the public really understand about "clustered regularly interspaced short palindromic repeats," aka CRISPR? It's fairly complicated to follow the details – the choreography of DNA, RNA and proteins; nuances of repeated and unique DNA sequences; details of recombination and DNA repair. But a PhD certainly isn't necessary to ponder the consequences of the ability to modify the human germline – the DNA that's passed on to future generations.

 

A carefully designed and tested questionnaire

 

In a paper in the January 2019 issue of Human Gene Therapy, Alex Hewitt, of the Menzies Institute for Medical Research at the University of Tasmania, a professor of ophthalmology who also has a PhD, and colleagues probed the reasons behind public perception of human gene editing

 

To continue reading, go to Genetic Literacy Project, where this post first appeared.

 

 

 

 

This is my 300th blog post for DNA Science. I'm so grateful to Public Library of Science for enabling me to comment so freely on all matters of genetics and genomics.

 

This week I look back on the crazy diversity of topics over the past year or so, and end with the posts that garnered the most attention, both good and bad. Two posts actually led to death threats.

 

I began DNA Science in September 2012, soon after my book The Forever Fix: Gene Therapy and the Boy who Saved It, was published. Luxturna, the blindness gene therapy that the book was about, received FDA approval at the end of 2017. And so the tag cloud focuses on gene therapy and diseases. But there's so much more, including my recent fascination with genetic genealogy, upon discovering half a dozen half-siblings.

 

The rest of the post links to the most popular and most controversial entries over the past 3 years. To continue reading go to DNA Science.

 

 

 

In her just-released memoir "Inheritance: A Memoir of Genealogy, Paternity, and Love," Dani Shapiro tells of discovering that she was donor-conceived. The subtext of her compelling story is to confront genetic determinism: the idea that we are our genes.

 

Dani found her biological father (BF) just 36 hours after receiving surprising results from consumer DNA testing. My story, still unfolding, is much more typical, as I wrote last week.

 

In a few ways Dani's experience was opposite mine, although our journeys both began with Ancestry.com. Dani's trajectory, somewhat atypical, was to find first that her half-sister wasn't her half-sister; that she had a new first cousin who would turn out to provide a crucial clue; and that she was only half Ashkenazi Jewish.

 

(This post became outdated days after I wrote it, when another half-sister contacted me. There are, at last count, 5 or 6 of us!)

 

To continue reading go to DNA Science, where this post first appeared.

 

In her new book, "Inheritance: A Memoir of Genealogy, Paternity, and Love," Genealogy, Paternity, and Love," author Dani Shapiro is speaking for tens of thousands of us who are discovering that we are "NPE." Not Parent Expected.

 

Dani learned that the man who raised her and who she thought was her father was not so, biologically speaking, thanks to a DNA ancestry test.

 

My own discovery is so overwhelming that I can't talk about it much, even though my new half-sister has possibly saved my life by adding to my known family's cancer history, affecting a recent medical decision. So thank you Dani. Here's a short version of my story, as many of us face the deluge of new cousins coming in from the holiday wave of DNA tests.

 

Initially ignored

 

The first email came September 8, 2018:

 

"AncestryDNA says we're close family, maybe first cousins. My maiden name is Penny Krause. Sound familiar? I grew up in Brooklyn."

 

 

To continue reading go to Genetic Literacy Project, where this post first appeared.

 

 

On December 5, the US Securities and Exchange Commission gave the go-ahead for LunaDNA to offer ownership shares to people providing their “personal health information,” including their DNA data.

The SEC thumb’s up may be a first, but it follows in the footsteps of Nebula Genomics, which Harvard’s George Church founded in 2016. The Nebula strategy: “Get sequenced. Discover your DNA and ancestry. Become one of the first to profit from your own genomic data.” (However, the public launch of LunaDNA was in December 2017, but Nebula in February 2018).

Both celestially-named companies connect consumers who have access to their DNA findings to researchers whose projects require a critical mass of data. Everyone wins. And in the process, the economics of human DNA sequencing has completely turned around. DNA data are now information for sale.

Remember the decade when sequencing the first human genome came with a $2.7 billion price tag?

To continue reading go to Genetic Literacy Project, where this article first appeared. Read More 

James Watson is best known for co-discovering DNA’s 3D structure and for helming the Human Genome Project at the beginning. But he’s also been known more recently for his racist statements. In the latest chapter of the dark side of Dr. Watson, Cold Spring Harbor laboratory issued a statement on January 11 condemning recent comments that he made January 2 on the PBS series “American Masters: Decoding Watson.”

The move effectively removes the final honorary positions held by Dr. Watson at the lab he once helmed.

According to the statement by Cold Spring Harbor lab:

Dr. Watson’s statements are reprehensible, unsupported by science, and in no way represent the views of CSHL, its trustees, faculty, staff, or students. The Laboratory condemns the misuse of science to justify prejudice.

To continue reading go to Genetic Literacy Project, where this article first appeared. Read More 

When a population rapidly plummets, the chance sampling of genetic drift and inevitable inbreeding can accelerate the pace of extinction. A new report in Current Biology reveals the genetic evidence behind the dire situation for Grauer’s gorilla.

Ancestral gorillas split into eastern and western species about 150,000 years ago. The western animals then split to yield the western lowland gorilla and the cross river gorilla subspecies. The eastern contingent diverged to give rise to the mountain gorilla and Grauer’s gorilla (aka eastern lowland) subspecies. This last primate lives in the Democratic Republic of Congo and is critically endangered.

From 5 to 10 million years ago, eastern gorillas were doing just fine. Then about 100,000 years ago, their populations began to decline. About 10,000 years ago they split into the mountain and Grauer’s subspecies. Then from 5,000 to 10,000 years ago, the Grauer’s population took off, expanding so quickly that some dangerous mutations occurred and accrued. Mountain gorilla populations remained fairly small, the numbers not allowing many mutations to accumulate.

Then about twenty years ago, the Grauer’s group hit a population bottleneck, and the numbers crashed down to about 4,000 animals, thanks to habitat destruction and poaching.

To continue reading go to my blog DNA Science, at Public Library of Science, where this article first appeared. Read More