GENETIC ALLIANCE 2nd ANNUAL GENE SCREEN FILM FESTIVAL

THURSDAY, JULY 15, 2010

Three screenings: 6:00 p.m., 7:30 p.m., & 9:00 p.m.

 

By Sharon Terry. Genetic Alliance will host its second annual Gene Screen mini-film festival in conjunction with its 2010 Annual Conference, Advancing Novel Partnerships.

This innovative event will shed light on the important world of health and genetics. Numerous creative and informative entries were received for this festival and after a competitive selection process the following films were chosen to be screened:

6:00 p.m. Screening: In My Hands: A Story of Marfan Syndrome – A film that focuses on people learning to live with Marfan Syndrome, a little-known and potentially fatal genetic connective tissue disorder. By following several families we see the despair and loneliness of trying to fit in with what is deemed normal, and we are moved by the hope and inspiration in finding a unique beauty within oneself.

7:30 p.m. Screening:  

• The Power of Two – A feature-length, character-driven documentary in production with international implications about the importance of organ donation and transplantation, Cystic Fibrosis awareness and related health causes. This short clip from “The Power Of Two” will engage and inspire people by conveying a fundamental truth: There is a miracle in every breath.
• Mito-Kids: Documenting Life – In a family shadowed by disease, there is a fine line between spoiling your kids and making sure every day is treasured.
• Jewish Genetic Disease – A film about the lives of three separate families that have experience with a Jewish genetic disorder.
• On Beauty – An excerpt from a film in production follows former fashion photographer Rick Guidotti as he skillfully employs his lens to redefine beauty by photographing children who are often relegated to the shadows because of their genetic conditions. His images are celebrations of life.

9:00 p.m. Screening: Darius Goes West: The Roll of His Life – A group of college students take 15-year-old Darius Weems, who has Duchenne muscular dystrophy, out west to try to get his wheelchair customized on “Pimp My Ride.”

Q & A with the filmmakers will follow each of the three screenings. Come for all three, two, or just one. For more information on the Gene Screen visit: http://www.geneticalliance.org/genescreen2010.

 WHEN:  Thursday, July 15, 2010 ~ Three screenings: 6:00 p.m., 7:30 p.m., & 9:00 p.m.     

 WHERE:  E Street Cinema ~ 555 11th Street NW, Washington, DC  (entrance on E St between 10th and 11th St)

 TO RSVP:  Contact Joy Burwell at jburwell@amplifypublicaffairs.net or call 202-263-2971

By Archelle Georgiou. On Wednesday, the FDA suddenly decided to impose their regulatory authority on personalized genetic test kits after Walgreens and Pathway Genomics announced they’d be selling them in local pharmacies. But, what triggered this response from the FDA?

Are they new? No. These kits have been available to consumers via the Web for 3 years.

Have they been off the regulatory radar screen? No. As far back as 2008, the rapid emergence of genetic testing fueled the passage of GINA, a federal law prohibiting health insurers and employers from discriminating on the basis of genetic information.

Have these companies been quietly launching their strategy and staying invisible? No. They have made major investments in marketing with an abundant amount of media coverage in women’s magazines and news shows.

So, why did the FDA choose to take a stand now?

Maybe the Agency was dealing with higher priority issues. The FDA is busy and constantly putting out other fires, resources are limited, and the number of people buying these kits off the Web has been relatively small. But, with the announcement that kits would available in 6000 local pharmacies, they may have been concerned about a surge in use and the need to fulfill their responsibility to protect the public. A “noble” act, I am sure.

But, were there other underlying forces? Who was nudging the FDA? And, why?

The American Medical Association recommends that “genetic testing only be made available under the supervision of a qualified health care professional.”

Hmmm… the most powerful lobbying organization within the traditional medical establishment believes that only clinicians should be the keeper of the keys to our personal DNA information. By the way, does “qualified” include mean nurses, pharmacists, and licensed genetic counselors…or is it really just a code word for “doctors?”

Is the AMA advocating for better health and the rights of consumers, OR…

….Are they trying to maintain a paternalistic status quo?
….Do they feel that doctors are relatively uninformed about the science behind genetic testing and trying to protect them from feeling unqualified to respond to questions when their patients come in with a 77 page report?
….Do they simply want to protect doctors’ revenue stream?

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NOTE:  Disruptive Woman Sharon Terry is quoted in TheWashington Post article linked below. If you haven’t already done so, take a look at Disruptive Woman Dr. Archelle Georgiou’s post entitled Stop the Drama and Spit in which she shares her personal experience with genetic testing.

“Beginning Friday, shoppers in search of toothpaste, deodorant and laxatives at more than 6,000 drugstores across the nation will be able to pick up something new: a test to scan their genes for a propensity for Alzheimer’s disease, breast cancer, diabetes and other ailments. ” Click here to read the rest of The Washington Post article.

I’ve been called many names…and, most of the time, I ignore it and let it roll off my back. But last week, I got the ultimate compliment. I was ordained as one of the “Disruptive Women in Healthcare,” a blog site that invites anyone, particularly women, to speak up and challenge the health care status quo. Since I got formal permission to be disruptive (as if I really needed to have someone tell me it’s okay), I am going to allow myself to be a bit irreverent in this blog entry. I apologize in advance.

The focus of this week’s blog is on the health benefits of personal genetic testing–an emerging area of medicine that intrigues many people when they read about it, but scares them too much to get tested themselves. Yes, the blog last week had a similar theme but was centered on the insight you can gain on your ancestral history. In full disclosure, that blog was just a set up; I used a heart-warming, personal story as a first step to getting your buy-in.

The Human Genome Project was completed in 2003, and since then, companies have been springing up that offer personal genetic testing to consumers. The space is dominated by 3 companies: Pathway Genomics, Navigenics, and 23andMe. For anywhere between $350 and $999, testing kits can be purchased without a doctor’s order. Unfortunately, even as the price has come down, very few people choose to get their genetic testing done.

Why?

“I don’t want find out something I don’t want to know.” “What if I find out I am higher risk for Lou Gherigs disease?” My personal concern was learning that I might be at higher risk for developing Alzheimers. I was so scared that I stared at the test kit for 3 weeks before I spit into the vial and sent it in. I told my family that the results would come back in 4-6 weeks and the information “had the potential to change our life forever.” The drama (which I am pretty good at) was almost worthy of a gold statuette.

But, after going through the entire process, I realize that the worry, the procrastination, and the hand-wringing were wasted energy. The report results were relevant, practical and actionable–TODAY. And, the benefits of knowing my genetic makeup far outweigh the false sense of security that we allow ourselves to experience when we are simply blind to the facts.

The majority of my fears were probably fueled by the unknown: manufacturers’ descriptions of report results are vague; I had never met or spoken to someone who had the testing done. So, the goal in sharing my test results with readers in this blog is to dispel some of the mysteriousness of genetic testing and to demonstrate that this important new technology is an easy, cost-effective way to improve health. And, in my opinion, it is the only tool/technology I have seen that might be able to successfully influence behavior.

So, I have one important key message I hope to get across: Knowledge is Power.

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It’s been awhile since I read a book that has influenced  my thinking.  Maybe it’s because I don’t read as many books for “fun” as I used to.  Maybe it’s because I’ve been pre-occupied with ARRA and HITECH related work or my graduate school course on medical ethics or my teenager’s triumphs and despair as she awaited college acceptance decisions.   But there I was driving in my car listening to a National Public Radio (NPR) segment.  Actually it was Fresh Air with Terry Gross. For the next several minutes I found myself drawn in by an interview with a science journalist named Rebecca Skloot, who wrote a book called “The Immortal Life of Henrietta Lacks.”

Now I’ve worked in the health care field for more than 35 years and lived in the Maryland-DC area for most of that time.  I had never heard of Henrietta Lacks or the HeLa cells.  Somehow I had missed prior accounts of the controversy (such as Cells That Save Lives Are a Mother’s Legacy New York Times November 17, 2001).   What I heard during the NPR interview propelled me to purchase the book and now after reading the book, I find myself amazed by the story and wondering about the many issues the story raises.

Henrietta Lacks’s story is the TRUE story of a woman who unknowingly supplied the first human cells grown in culture, leading/contributing to what many consider to be scientific and medical advancements such as the vaccine for polio, clone mapping, and in-vitro fertilization.   As the story goes in 1951, a doctor at Johns Hopkins in Baltimore took cells from the cervix of Henrietta Lacks who was a poor African-American woman dying of cervical cancer.  What’s so significant about something that happened back in 1951?  It turns out that her cells were/are unique. They have multiplied and multiplied and multiplied and have been used in tens of thousands of research studies by dozens and dozens of researchers.  It seems that a lot that is happening today remains VERY relevant. Not the least of which is just telling Henrietta Lacks’s story.   Her story has implications for ongoing health research and policy and ethics and law and patient’s rights.

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By Sharon Terry.  I am being inducted into my Ashoka Fellowship today, and attending the Ashoka Future Forum. It is astounding to meet so many other Fellows, a first of its kind gathering for Ashoka USA.

I am listening with new ears – understanding the bind we place ourselves in when we become deeply entrenched in our issues. The issue of health is especially vulnerable to being siloed, being held apart. I am really enjoying aligning health issues with all of the other issues around me here – the disruption, amongst all of these brilliant Fellows, is the use of novel and unique ideas to transform a problem.

For me the biggest question today is how can we unleash entrepreneurial insights and resources into a highly dysfunctional non-system. It would seem the answer should be an easy one, since the field is crying for solutions.

I strongly believe the first step must come from each of us – and it must result in the dissolution of boundaries. If just today we each remain attentive to the first moment of stress or conflict in our lives, and use that moment for the rich fodder that it is, we will begin the long road to deep healing, literally and figuratively.

In that first moment of colliding ideas, tension, odds… pause today – ask what you can give up, and how you can join your energy to some part of the other opposing idea.

When I do this, there will be a great energy release in the liberation of my ‘intellectual property’. I can see the other and their idea better, and find our commonality. I can call both of us to a higher place.

Let’s give health a chance today – and give it and us a break.

The following is a guest post by Archelle Georgiou, MD. Archelle is a 40-something year old doctor and the health expert on Fox9 News in the Twin Cities. She has spent 25 years in health care… in private practice, in corporate America, and now has her own consulting practice, Georgiou Consulting, so that she can pursue health care projects, initiatives, and causes she believes are most meaningful to making a difference for people. Archelle blogs at Archelle on Health.

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We all enjoy the heart-warming stories of siblings who are separated at birth and miraculously re-connected with each other as adults. We empathize with the need for adopted individuals to search for their biological parents. Why? Because we have an innate need to know who we are, where we came from, and who we are connected to. For the majority of us, our identity is not a gnawing issue. We are surrounded by our parents, siblings and extended families. We are comfortable, sometimes too comfortable, with the personal, cultural and religious labels that our parents bestow on us, and we live our lives believing that we know who we are.

But do we?

As the daughter of Greek immigrants, I always considered myself a thoroughbred. I never questioned my own cultural background, but as far back as I can remember, I was curious about Jews and Judaism. The reality was that I knew nothing about the culture or the religion except that Pikesville, the Jewish neighborhood in Baltimore, was the only area that had a bagel store. I was 24 the first time I entered a synagogue. I felt at home, but it wasn’t about the religious aspects of the service–it was all in Hebrew and I didn’t understand a word. I simply felt a connection to the environment. In 1988, I converted. While the timing centered around our wedding, the decision to take this step seemed completely natural.

It wasn’t until I had personal genetic testing that the pieces of the puzzle fell into place. Mitochondrial DNA from my cheek swab and a saliva sample (I had 2 confirmatory tests because I am compulsive) showed I am in Haplogroup K – a group once found at high frequency in the Basques of northern Spain between 4,000 and 5,000 years ago. My specific haplogroup subtype is K1a5: Seventy percent of the people with my mitochondrial DNA are Ashkenazic Jews. Relatives who have done some additional genealogy research discovered that my maternal grandmother’s family, named “Leventis,” were previously named “Levin.” Six hundred years ago, the family was most likely from Spain but migrated to Greece during after the Inquisition in 1492. They assimilated….became Hellenicized…and the rest is accurately captured in “My Big Fat Greek Wedding.”

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This month, Disruptive Women welcomes Patrick F. Terry, a self-proclaimed “JAD” (Just A Dad), as our Man of the Month.

Q: So, where should we start? You have been involved with founding a number of ground breaking biotechnology companies, life science research foundations, trade associations, philanthropic groups, and a whole host of public policy organizations.

A: I enjoy thinking ahead and trying to do the next new thing to advance science, biomedical research, and the business of patient-centered health care. I’m very impatient for change. I consider myself an unrepentant insurgent, renegade, and rabble rouser. I think that is the most powerful disruptive technology there is. That’s why I love the Disruptive Women in Health Care Blog.

But honestly, everything I do is in a lame attempt to keep up with my wife, Sharon F. Terry. She is one of the Disruptive Women Authors and a force of nature like the others here.

I have been burdened with the ability to visualize the dynamics of highly complex systems (like the health care enterprise) and make sense out of navigating or reorganizing aspects of the system to create new efficiencies. U.S. health care is the most inefficient and expensive system ever conceived of and implemented in the history of the planet. It is a wonderfully disturbing playground for a person like me. So, as a coping mechanism I have to create new organizations and social systems to help drive change and innovation.

I have been lucky to be associated with some really brilliant and creative people. For example, the great group who I worked with to start Genomic Health [NASDAQ: GHDX] and apply innovative clinical genomics to successfully change the standard of care for breast cancer in record time. I learned a ton from all the talented people there and from that commercial experience. It made me audacious about what was possible in the new era of optimized precision medicine, personalized medicine, technological innovation, and new approaches to health care delivery.

Q: So, why are you doing all these different things?

A: My kids made me do it! No, really they are the reason I do what I do today. A little over a decade ago, my two children were both diagnosed with a rare genetic disease a few days before Christmas. My wife and I were blown away. The diagnosis was traumatic. In hind sight, it was a seminal, life altering event. It had a profound effect on me as a man, a father, and a husband. At the time, I considered myself a failure at each. What could I do for my kids now? As a young Dad, I completely bought into the archetypal role of supporting, protecting and providing for my family. It was all I thought about. It gave me a clear purpose in life. So, after a few weeks of trying to cope with the emotional rollercoaster of my kid’s diagnosis, I decided to try to find a treatment intervention for their disease. That was the day I decided to do the improbable, potentially the impossible – tame a genetic disease. Take on the system as Just A Dad.

Q: What did you do next?
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Well – sadly it’s been one year since I have posted a blog with Disruptive Women in Healthcare so I really need to update you all on the fascinating science occurring in the genomics community.

Shortly after I wrote my last blog in October 2008, I attended a meeting at one of our country’s finest scientific institutions– Cold Spring Harbor Laboratories – where some of the world’s foremost scientific discoveries have occurred. At this inaugural meeting entitled “Personal Genomes”, scientists discussed the tremendous potential for understanding the genome and translating this knowledge into our quest for the personalization of healthcare – yet at this meeting one year ago, we were acknowledging that we had sequenced less than a handful of genomes, the task at hand enormous and not for the faint of heart. Yet these initial genome sequences revealed the extensive diversity and challenges in linking common disease phenotypes to individual genetic variation.

I returned to Cold Spring Harbor for the second “Personal Genomes” meeting two weeks ago and I must say, I have begun to see our path forward. Well over 50 genomes have now been sequenced, the quest for the $1000 Genome is at hand and we are beginning to feel the momentum building with a strong emphasis on the field of cancer. Indeed just last week, President Obama and Dr. Francis Collins, the newly appointed NIH Director, announced some $5 billion in NIH awards to be spent during the next two years through the American Recovery and Reinvestment Act all aimed at advancing scientific discoveries. Including in this funding is $175M to extend the Cancer Genome Atlas project. The intent is to sequence the DNA from thousands of tumor samples, obtained from 20-25 tumor types, to help us understand the genetic variation within these tumors that have resulted in their unchecked growth within the human body. The quest being the fundamental understanding of what goes wrong in the tumor tissue and thus offering new hope for better therapies and the ability to match an individual’s genetic signature to the best treatment. I remain optimistic that in my children’s lifetime, cancer will be a chronic, treatable disease.

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Join three Disruptive Women on Wednesday, September 23rd, from 12-1 pm for a free webinar on open dialogues in health.

Wednesday, September 23, 2009 12:00pm – 1:00pm ET
Fostering Open Dialogues in Health: Disruptive Women in Health Care
Hot Topics in Genetics and Advocacy
Register for this event here: https://www2.gotomeeting.com/register/764236011.

Fostering open dialogues on hot topics in health presents unique challenges. Today, innovators are exploring the use of technology to generate multiple perspectives in these dialogues. The Disruptive Women in Health Care blog is an example of the rich and open dialogues happening online now. Hear about the model Disruptive Women in Health Care employed and their principles for fostering openness. Presenters will also outline health reform as an example of how this open dialogue is taking place and fostering interaction. Specifically, they will discuss ways care will be delivered from an integrated team-based approach, and how patients and caregivers will be active participants or advocates in the new health system created after health reform.

Presenters:

• Robin Strongin – President & CEO, Amplify Public Affairs, LLC; Creator & Founder, Disruptive Women in Health Care blog
• Ruthann Russo – Partner, Russo & Russo, LLP
• Pat Ford Roegner – CEO, American Academy of Nursing