DTC testing

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


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


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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