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

Genomics in 2016: Nathan and Laura Name Their Top Stories

From new CRISPR trials in humans to mitochondrial transfer therapy, from the spinout by Illumina of two new genomics health companies to the complete and utter failure of Theranos, from the approval by the FDA of GM mosquitos to the FDA giving up on LDT regulation as a result of the election, the genomics headlines of 2016 didn’t fail to dazzle, deliver, and disappoint.

Hear which stories our regular commentators, Laura Hercher and Nathan Pearson, chose as their top and also most underreported of the year in today’s look back on 2016.

What Does the Election Mean for Genomics? November 2016 with Nathan and Laura

While everyone is asking what will become of Obamacare, we ask our regular commentators, Nathan Pearson and Laura Hercher, specifically about genomics and medicine.

Nathan begins by saying that data scientists everywhere should be humbled. Does the failure to predict the election send out warnings about big data predictions in genomics?

Laura points out that Obamacare covers many of the new genetic tests which have become available in the past decade, such as screening tests for hereditary breast and ovarian cancer syndrome and lynch syndrome. Coverage for these tests is now up in the air.

"It is cruelly absurd to talk about the value to the human race of identifying the people with these syndromes if we don't then give them the ability to act on the information," she says.

No matter what happens to Obamacare, isn't there bipartisan support for genetic testing and for research funding? (See the passage yesterday of the 21st Century Cures Act.)

Both Nathan and Laura agree that genomic medicine will continue apace. However, they worry that under a Trump administration the less fortunate will become even more vulnerable and have less access to improvements in healthcare. They point to an area of testing that is already highly politicized: prenatal screening. Will women lose access to testing in an era that reverses gains made in women's reproductive rights?

We finish with a local election in the Florida Keyes where residents approved the use of Oxitec's genetically modified mosquitos. Fear, Laura points out, can quickly change suspicion into acceptance.

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!"

Erica Ramos on Her Pioneering Role as Genetic Counselor for Industry

For the next installment of our series on genetic counseling, we’re joined by Erica Ramos. She’s the president-elect of the National Society of Genetic Counselors and was the second genetic counselor hired at Illumina where she’s been for four years. Illumina now has 15 genetic counselors.

Erica has been a trail blazer throughout her career. Before joining Illumina, she was the first ‘cancer counselor’ in the city of Las Vegas, Nevada. Her time at Illumina has been a prime example of the evolving role of the industry counselor.

“Genetic Counselors are starting to be recognized more and more as experts in bridging gaps between physicians and researchers, patients and physicians, and now even companies and their customers,” she says at the outset of today’s interview.

When asked about the tension between the commercial pressure from her company to sell tests and the actual needs of the patients, Erica says Illumina wants to sell the right tests and she quotes Illumina’s new CEO, Francis de Souza: “sometimes you need to go slow before you can go fast.” Erica says that it’s good for business to engage the genetic counselor early on in product development so that the right product is chosen.

We finish the interview with a preview of the upcoming National Society for Genetic Counselor's annual education conference, Sept 28 to Oct 1 in Seattle, Washington.

The Days of Miracle and Wonder: Laura Hercher on Genetic Counseling, Part 2

We often hear at conferences that there are too few genetic counselors. And that this bottleneck is constraining the delivery and promise of genomic medicine. Is this true?

It is 100% true, says Laura Hercher of Sarah Lawrence College in the second part of our interview on genetic counseling.

“We graduate just under 300 genetic counselors a year. And last year at our annual meeting [National Society of Genetic Counselors], there were posted over 600 jobs. We’re producing jobs at a much greater rate than we’re producing counselors.”

The interview moves to a broader discussion about how society goes about keeping up with the increasing amount and power of genomic technologies, such as new gene editing techniques. Laura reads an excerpt of her recent piece at the DNAExchange.com

“There is no simple solution to this, but the battle begins with how we define ‘we’. Genetics needs to remind us of what we share as often as it tells us how we are different. Many of you are out there every day fighting battles you may not recognize as part of a larger war: battling insurance companies for access, battling to bring diversity to our biobanks and clinical trials, supporting a new vision of family, in which our 99.9% shared DNA is enough, and we are not defined by the fraction that is identical by descent. We are educators in a field that is an agent of change, and so it falls to us to work for an ever more expansive and inclusive definition of ‘we’. Without that, we risk that the amazing technology of the genomic age will be perverted into a tool for doubling down on the things that divide us.

These are the days of miracles and wonder

This is the long distance call

The way the camera follows us in slo-mo

The way we look to us all

The way we look to a distant constellation

That’s dying in a corner of the sky

These are the days of miracle and wonder

And don’t cry baby don’t cry

Don’t cry

The Days of Miracle and Wonder: Laura Hercher on Genetic Counseling, Part 1

They’ve been called the “unsung heroes” of our age. They are primarily women. And when the trend for most of us is to become specialists, they have been generalists.

Today we begin a special series on genetic counselors. Our first guest, a genetic counselor herself, is a name familiar to our audience. Laura Hercher is one of our regular month-in-reviewers, and today it’s all about her. She is on the faculty at Sarah Lawrence College where the first genetic counseling program was begun in 1969 and where half of the nation’s genetic counselors have been trained.

Like many other fields, there are different schools of thought when it comes to genetic counseling. In today's show, Laura says that the older method was for the counselor to decide what genetic data was good for the patient. It was thought that "genetic information is super explosive, and you have to treat it like non-exploded ordnance all the time and be very very careful what you give out."

Now, Laura says, the trend in genetic counseling matches that in the world at large "where people expect a free flow of information," and more is left up to the patient. "The early studies we've gotten have suggested that people can handle information."

What makes a good counselor? And is there a difference between counseling in the clinical setting and counseling for industry?

These are a few of the questions we cover in Part 1 of the interview.

Listen to Part 2.

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.

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