DTC testing


Green Light for DTC, Blood Mammograms, and Ancient DNA: April 2017 with Nathan and Laura

For genomics nerds, April 2017 will be remembered as the date when the FDA adopted a more open policy towards 23andMe and direct-to-consumer (DTC) genetic testing. What does this decision mean, and just where is the FDA drawing the line? A genetic counselor herself, Laura found the decision “head turning.”

“There’s lots of reasons why some genetic counselors are not going to be thrilled to deal with everyone’s 23andMe results,” she says.

For the “cool new studies” section of today’s show, Laura is excited about a research project announced by Grail, a spinoff from Illumina working on a pan cancer screening test. And Nathan points out that the trend for researchers to look back at ancient DNA sharpened this month with two new studies that not only open up the possibilities for historians and archeologists but also have relevance to human health longterm.

“We’re getting much better at doing it,” he says. “So look for more of this ancient meta genomics where we can find little fragments of DNA outside of cells but intact in sites like soil. They’re very diverse, but we're starting to figure out really what was going on at a place some time in the past."

We finish with a couple stories that are giving pause to researchers working on gene therapy and immunotherapy.

It’s commentators Nathan Pearson and Laura Hercher joining Theral to talk genomics for April.

39andRufus: Genetic Testing for Pets

Inside Edition reported this week on the availability of genetic testing for dogs.  But the tests mostly serve the purpose of upsetting owners who find out that their man's best friend isn’t the pure bred man's best friend they thought it was.    We did some research and found some genetic testing for dogs and other animals that had pet owners much more enthusiastic.

Dogs

October 2016 with Nathan and Laura

Today’s show was recorded on Halloween, which now feels so yesterday. Forgive us for some spookiness.

What doesn’t feel so yesterday is the launch this past month of Helix, a company spun out of Illumina that aims to add exomes to the lineup of direct-to-consumer testing. Nathan points out their model for delivering data incrementally through various apps. Laura questions how Helix will vet the apps.

This month the genomics community gathered in Vancouver for the annual American Society for Human Genetics conference. The commentators give their highlights. Then we double back on a genetic counseling conference from last month and a big topic that we missed in our last show: population screening for BRCA.

It’s a bird, it’s a plane, it’s a turducken gone crazy. . . . . No, actually, says Nathan, “it’s a virus inside a spider costume for Halloween inside a bacterium inside a fly!"

Gene and Tonic: Competition for 23andMe, Four Tips for Attending AACR 2015, and "Swab Stories"

An Old New DTC Co. on the Move

Let’s start with a bit of trivia.  What company has resorted to selling genetic ancestry testing online direct to consumers?  Hint:  the company is located in the San Francisco Bay area, has banked more than 800,000 samples from customers all over the world, and is slowly transforming itself into major biomedical player.

That’s right.  You got it.  It’s Ancestry.com.   

This week, an article over at Fusion revealed a company on the move.  The CEO of Ancestry.com, Tim Sullivan, says the company is “exploring ways that we could participate in health and provide our users with health insights."  Ancestry.com--which was founded by a couple Brigham Young University Grads--has been gathering customers’ family history data for decades.  Now they realize the gold mine they’ve been sitting on is much bigger than scoring free passes to the Mormon temple.

Watch out 23andMe.  You’ve got competition.

Four Tips for Attending AACR in Philadelphia

Now, if you work in life science, no doubt you are either headed to or know someone that is headed to the biggest cancer research show of the year,  AACR 2015.  In about a week, 18,500 scientists, doctors, patients, business folks will  descend on Philadelphia to figure out how to get patients to survive cancer long enough to get Alzheimer’s.

For conference goers, we thought we’d offer some helpful hints for your stay in Philly.

First of all , if you’re from California, enjoy using all the water you want.  Go for it.   Stay in the shower for an hour.   Revel in the fact that you don’t have to order water at the restaurant table.

Second--and this tip comes from city leaders.  They ask, what scientist has time to go to a museum?  Here’s a hands on suggestion for duplicating an experiment by one of  America’s first great scientists.      You don’t even have to leave the conference building or your hotel.  Get hold of  a metal key--your room card won’t work--and plug it into any electrical socket.   City leaders are quoted as saying, “This is an easy way to feel what Benjamin Franklin felt as he discovered the conductive properties of electricity.  No driving through crowded city streets.  And any electrical outlet in the city will do.”

Third, if you do have time for a museum, we’ve found just the one for you: the Mutter Museum, a medical museum located in the city center.  

Here you will find:

-a malignant tumor removed from President Grover Cleveland’s hard palate

-a piece of tissue removed from the thorax of Abraham Lincoln’s assassin, John Wilkes Booth

-slides of Albert Einstein’s brain

-and our favorite,  a giant nine foot long human colon that contained over 40 pounds of fecal matter

Our suggestion for lunch:  the equally enticing Philly Cheesesteak.

Fourth, we suggest you skip the Liberty Bell.  It’s just not all it’s cracked up to be.

Swab Stories

Finally, last week we came up with 10 reasons to  have your genome sequenced.  To find out that you married your first cousin, we joked, or to have that sperm donation from college come back and haunt you in the form of  your own kid.  Well, it turns out these aren’t jokes.

Have you heard of the DNA truck?  This is a lab on wheels that has been going around New York City for five years now swabbing people’s cheeks to answer their most private genetic dilemmas.  Well, it was announced this week that the DNA truck will be the subject of a new reality TV series on VH1.  That’s right.  We can now watch as a woman finds out that last night’s date was with her brother.   The title of the show:  Swab Stories.  I’m not kidding.  The entrepreneur and soon to be star of the show, Jared Rosenthal, says, “DNA is a human need.  I hope people see that this is a lot more universal than they realized.”

Which leaves us with the question:  Who’s your daddy?

 

The Impossible Job of Genetic Counseling: Misha Angrist Part I

Guest:

Misha Angrist, Author, Assoc. Professor, Duke Institute for Genomic Sciences

Bio and Contact Info

Listen (7:25) New MA in Bioethics and Science Policy

Listen (7:58) Can we embrace NIPT without losing compassion for those with developmental disabilities?

Listen (3:24) How does the process of bioethics work?

Listen (7:41) The unsung heroines

Duke University's Institute of Genome Sciences and Policy will be gone on July 1st. It was announced earlier this year that the flagship institute will be broken up into several new programs. This gave us the perfect excuse to talk about science policy and bioethics challenges in a two part interview with an old Mendelspod friend, Misha Angrist. Misha is an associate professor at Duke and a well known author (Here is a Human Being: At the Dawn of Personal Genomics). He'll be working with Nita Farahany in the new Duke Science and Society Program which is introducing an MA in Bioethics and Science Policy later this fall.

Part I of Misha's interview begins with a discussion about the new masters degree, a first of its kind, and then moves on to a broader discussion of prenatal diagnostics (NIPT). Misha shares some of his concerns with the rapid uptake of prenatal testing, summing up with a question:

"Can we embrace NIPT without losing our compassion for people with developmental problems?"

Misha says he's not a bioethicist (why doesn't anyone want to call themselves a bioethicist?) but then offers some insight into the process of bioethics.

"One of the problems that bioethics has is that we like to traffic in the binary, that things are either/or, and we pit things against each other. That's not always appropriate."

But the meat of the interview has to be Misha's passion for the genetic counselor. Misha jokes about his own path as an "almost" genetic counselor, then goes on to say that:

"Genetic counselors are unsung heroes--or heroines, since the overwhelming majority of them are female. They have an impossible, thankless job. They have to deliver bad news very often to people who may or may not be prepared to hear it."

Stay tuned for Part II of the discussion where Misha shares his thoughts on 23andMe and the future of DTC testing.

Podcast brought to you by: See your company name here. - Promote your organization by aligning it with today's latest trends.

FDA Crackdown on 23andMe Delays a Revolution in Medicine, Says Medical Geneticist, Gholson Lyon

Guest:

Gholson Lyon, Assist. Professor, Coldspring Harbor

Bio and Contact Info

Listen (3:39) Why are you a fan of 23andMe?

Listen (4:58) What about the quality?

Listen (1:13) PGP limited in participation compared to 23andMe

Listen (11:45) Are you against regulation of CoDx or Rx?

Listen (4:29) Delaying the revolution

Listen (2:25) How do you envision the revolution?

About a week ago we featured a regulatory expert on the program explaining why the FDA's letter telling 23andMe to stop selling their PGS test is a good thing. Today we feature an outspoken fan of the DTC company, Gholson Lyon, medical geneticist at Cold Spring Harbor Laboratory.

Gholson is himself a happy customer of 23andMe, and says he's found the service invaluable. In 2011, Gholson led a team in the identification of a new rare genetic disease, Ogden Syndrome, which caused the death of a four month old Utah boy. At the time, Gholson did genetic tests on the boy's family, but was unable to return their results because the tests were not done in a CLIA laboratory. This led Gholson to become an advocate for doing genetic tests for research in a CLIA facility so that results might be returned to patients. Since the 23andMe service is done in a CLIA approved lab, Gholson found the company an excellent place to do genome wide testing.

But is CLIA regulation--which guarantees analytic validity--good enough for the kind of disease risk reports put out by 23andMe to their more than 500,000 customers? Gholson says yes. And regulating the tests further will cut out an important part of a new revolution in medicine.

Gholson acknowledges the diagnostics industry is attempting to bring up the quality of genetic tests, but says that industry companies are producing one-off tests done without the broader context of the genome. This is why he likes the 23andMe service.

"If you don't sequence or genotype the rest of there person's genome, then you have no knowledge about their ancestry and what population they come from. And so you really cannot predict the expression of a particular mutation in that person," he says in the interview.

Gholson also points out that by being a DTC company, 23andMe has been able to recruit many many more participants and data sets than a non-profit, such as the Personal Genome Project, of which he's also a member.

Just how far does Gholson go in his stance against regulation? And how does he envision this revolution in medicine?

Podcast brought to you by: See your company name here. - Promote your organization by aligning it with today's latest trends.



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