By Rachel Rettner. Researchers in Spain say they’re close to marketing a genetic test that could tell consumers how fast they are aging and, potentially, how long they will live. But experts say that such claims are false.

The Independent, a British newspaper, reported Monday that scientists are developing a blood test that would measure the length of an individual’s telomeres, or caps on the tips of chromosomes that protect the chromosomes from damage. Telomeres are thought to play a role in aging, and previous studies have found an association between telomere length and lifespan.

The test would tell an individual if their “biological age” — the age of their cells — matches their chronological age, the Independent reported. This information, in turn, might tell a person how many years of his or her life remain. The researchers hope to market their test to the general public later this year, sold by the company Life Length.

Estimating biological age

However, experts argue that the scientific understanding of telomeres is not at the point where such a test would be accurate. We know telomere length changes with age, said Carol Greider, a geneticist at John Hopkins School of Medicine in Baltimore who studies telomeres. But in the general population, the length of people’s telomeres varies widely. A 20-year-old and a 70-year-old might have telomeres that were the same length, Greider said.

“We cannot tell how old a person is by looking at their telomeres,” Greider told MyHealthNewsDaily. In addition, you can’t tell someone they have the cells of a 50-year-old, even though they’re 20, she said. “I would say that it is not possible to tell a persons ‘biological age’ from their telomere length,” Greider said. If a test says it will tell you how long you will live “clearly that’s not true,” she said.

Others say it is possible to get a ballpark “biological age” by looking at an individual’s telomeres. But it’s essential to have information on additional factors as well, including the person’s gender, age when they gave the test, family history of disease, smoking history and how often they are exposed to sun, all of which can influence telomere length, said Gil Atzmon, a researcher at the Albert Einstein College of Medicine in New York who has studied the genetics of aging. Taking all this information into account, you could estimate a person’s biological age, but the accuracy would be skewed by 5 to 10 percent, Atzmon said. That means, if a test predicted your biological age was 50, your real biological age could be between 45 and 55, Atzmon said.

The researchers say they will determine the percent of very short or “dangerous” telomeres within a cell.

“A short telomere represents a persistent and non-repairable damage to the cells, which is able to prevent their division or regeneration,” said Maria Blasco, inventor of the test and researcher at the Spanish National Cancer Research Centre in Madrid. The researchers hope to construct a database of telomere length values for the general population so they can tell whether the percentage of short telomeres of a given person is within normality for a given age or indicates a younger or older biological age,” Blasco told MyHealthNewsDaily.

The genetic test would take into account other factors that affect aging, Blasco said.

However, Blasco stresses, “We will not tell the clients how long they will [live].”

Individuals with the shortest telomeres — shorter than 99 percent of the population — are at risk for certain diseases, including bone marrow failure and lung disease, Greider said.

Consumer interest?

Jerry Shay, a professor at the University of Texas Southwestern Medical Center in Dallas and a consultant for Life Length, said consumers would be interested in such information. “I think people are just basically curious about their own mortality. If you ask people what they worry about, most people would say they are worried about dying,” Shay told the Independent.

He added: “People might say ‘If I know I’m going to die in 10 years I’ll spend all my money now,’ or ‘If I’m going to live for 40 more years I’ll be more conservative in my lifestyle.’

Greider said it’s up to consumers whether they want to have this information, but up to scientists to make sure the public understands the true meaning of the results.

“It’s a very personal choice whether somebody wants to know their genetic status,” Greider said. “It is up to [scientists] to accurately say what we understand the genetic changes mean,” she said.

This article was originally published on msnbc.com on May 17th.

Family health history is the story of diseases that run in your family. It is one part of the entire history of your family. Along with culture, values, environment, and behaviors, family health history influences the way you live your life. Learning about your family health history can help you make healthy choices: It is a cheap, easy way to improve your own health and the health of your family. Share the information you gather with your healthcare provider to further reduce your risk of disease and create a partnership around your health.

Check out the Does It Run In the Family? toolkit in English and Spanish! “A Guide to Family Health History” explains the importance of family health history, how to collect it, and how to organize it. “A Guide to Genetics and Health” explains genetics 101 and gives information on conditions that can run in the family, such as heart disease, diabetes, and cancer. Customize these booklets for your family, organization, or community.

TIPS FOR COLLECTING YOUR FAMILY HEALTH HISTORY

Learn all you can about your family’s health!

How do I collect family health history?

• Talk to your family!
  • Holidays and other family events (birthdays, weddings, religious gatherings) provide a great opportunity to ask family members about their lives.
  • Plan individual conversations to get more information.
• Use what you have—existing charts or trees, photo albums, baby books, birthday date books, etc.
• Send a survey. This can be part of a holiday newsletter or school project.

What information should I collect?

Collect information on you, your parents, siblings, and children, and then move on to the extended family:

• name and relationship to you (myself, parent, child, etc.)
• ethnicity, race, and/or origins of family
• place and date of birth (or your best guess—for example, “1940s”)
• if deceased, age and cause of death
• health history—include conditions such as heart disease, diabetes, and cancer—and when the disease started
• lifestyle (occupation, exercise, diet, habits such as smoking and regular doctor check-ups)

Collect stories about your heritage and culture. This is an excellent opportunity to preserve your family’s memories.

What should I do with the information I collect?

• Bring it to your healthcare provider. S/he might refer you to a genetics specialist or recommend early screening.
• Use it to make healthy lifestyle choices. You can change your diet and exercise habits to reduce your risk for many conditions.
• Share it with your family. Shared knowledge can lead to support.
• Keep adding to your family health history. It is a lifelong process!

For more family health history resources, click here.

By stepping back, once a year, I use the opportunity to reflect on the rapid pace of technology development in the area of DNA sequencing and pose the question – “Does this rapid pace translate into something meaningful for patients?”  Hopefully as you read this synopsis you’ll come away with an understanding that technology alone isn’t enough, but the emergence of new critical success factors suggests the answer is yes!

“We’ve discovered the secret of life." - Francis Crick

Indeed from just one year ago, the cost of DNA sequencing has declined precipitously – a year ago, a complete human genome sequence cost somewhere between $50,000-100,000. Today, the cost is closer to $10,000 with the promise of the $1,000 genome over the horizon.  New companies have entered the market and the competition continues unabated with desktop machines promising to enable complete genome sequencing shortly.  Yet while this addresses the continued technological innovation, does it deliver impact on health care?  Not quite yet, but if you’ll allow me, I’ll digress some and tell you why I believe this will change shortly.

Having spent the better part of my career in the field of personalized medicine, I have had the opportunity to know many people who are passionate about this field and contribute in major ways to the pace at which this field is developing.  One of these individuals is Mark Boguski, an MD and PhD.  Mark is presently an Associate Professor of Pathology at Beth Israel Deaconess Medical Center and the Center for Biomedical Informatics at Harvard Medical School.  Mark has held numerous influential positions during his career including a major leadership role at the Novartis Biomedical Institute, a founding directorship of the Allen Brain Institute and was a founding scientist at the National Center for Biotechnology Information.  Mark’s and my path have crossed many times over the years but a key hallmark of Mark’s career is that he is always ten steps ahead of the field and can see well what the future holds. 

I reflect on Mark’s experiences for you as earlier this year he invited me over to Beth Israel to meet with him and Jeffrey Saffitz, MD, PhD and Chief of the Department of Pathology at Beth Israel.   We discussed the pace of technological innovation in DNA sequencing and agreed that the business investments will ultimately deliver on the promise of the $1000 genome. 

Yet they shared their concern that those closest to the patient – physicians and namely pathologists, who have often led the innovative use of new technologies, remain behind in this race if we are to fully integrate our new knowledge into patient care. 

We talked about our shared vision for effectively translating genomic sequence data into useable information for patient health care and the key role the pathology discipline should play in shaping this new world of sequence based diagnostics. At the same time we have shared a common understanding of the critical need to ensure that our new physicians were well equipped to deal with this new information. 

And once again, Mark is leading the way to a future where all the pieces come together to deliver on the promise of innovation.  At Beth Israel, Mark, Jeffrey and colleagues have created a new pathology program which is meant to fill the gap – bringing together pathology and laboratory medicine, genetic counseling services and health information technology.  Entitled the Genomic Medicine Initiative, this program is intended to prepare new physicians for the dawning era emerging from the technological innovation of DNA sequencing technologies.

When I went to visit Mark and Jeffrey some six months later, they were already in the midst of experimentation to prove out their hypotheses, executing full genome sequencing studies of a select group of patients to allow integration with health data to begin the experimentation necessary to fully realize the potential of the information, all with medical students watching, learning and fully accepting the reality of the new technologies.  

Initially, much of their effort will likely be focused on cancer, the area where the most fundamental discoveries of genetic differences found in the tumor offer guidance for therapeutic intervention based on the genetic underpinning of the disease. During this visit, it was clear to me that their “Call to Action” was being heard and being translated into countless numbers of new medical professionals.   I look forward to my next visit with them.

And thus, a picture emerges as one considers scientific innovation. A former Pfizer colleague and I always used to say, “technology delivers and delivers at a pace far faster than one imagines.”   Yet scientific innovation alone is not sufficient for effective integration into our health care system.  

Technology must intersect with the physician and be fully challenged, debated, tested and valued before we realize the full potential of any technological innovation.   We are at the early stages of this in the field of DNA sequencing but when medical centers such as Beth Israel take on the challenge, as they are doing, we are sure to see the full course of innovation delivered.

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

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?

I am not picking on doctors…merely the lobbying group that positions itself as a voice for doctors. We should remember that the AMA only represents 29% of US physicians. So, maybe we should listen to the voices of other professional organizations including the American Society of Clinical Oncology (ASCO), the National Comprehensive Cancer Network (NCCN), the Society of Gynecologic Oncologists (SGO), the National Society of Genetic Counselors (NSGC) and the Oncology Nursing Society (ONS) that have more patient-centric positions regarding direct to consumer genetic testing. While all are similar, ONS specifically advocates for pretest education, counseling, and informed consent, with post-test disclosure and follow-up. I would even go further and mandate a telephonic/web based discussion with the certified genetic counselors that are already on staff part of the support team of the genetic testing companies. (FYI, only 10-20% of people currently take advantage of the ready access to genetic counselors. Even as a physician, I found this an important and valuable part of my experience.)

This type of solution would entail a few more steps than the current process which simply requires a credit card and some spit, but it would help assure that people are fully informed. At the same time, it allows the consumer to stay in control and eliminates the additional cost (or profit, depending on what perspective you have) that mandatory physician visits and consultations would incur. In addition, the big 3–Pathway Genomics, Navigenics, and 23andMe–should be able to integrate online education into the patient experience process since each already has elaborate consumer web capabilities.

The managed care industry eliminated doctors as gatekeepers to health care services in 1999. It is now 2010. We don’t need doctors as gatekeepers to our own health information.

Create Health,
Archelle

This blog entry was originally posted in Archelle On Health on May 13, 2010.

“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.

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.

The 77 page report I received online was divided into 3 health-related sections: Drug Response, Carrier Status, and Complex Health Conditions.

Drug Response: I had an atypical response to 2 of 9 drugs/therapeutic classes.

1) I metabolize caffeine at a slow rate due to lower levels of the CYP1A2 gene that makes the liver enzyme responsible for caffeine metabolism.

Practical application: Very interesting. This result likely explains why I had a drug reaction to a Midol that I took for the first, and last, time about 6 months ago. Midol, as well as many other OTC drugs (for example, Excedrin and Anacin) contain caffeine. So, no more caffeine-containing drugs for me, and no purchases of OTC meds without checking the ingredient labels first.

2) I have a reduced response to Tamoxifen, a drug used in prevention and treatment of breast cancer.

Practical application: Fortunately, I don’t have breast cancer and am not high risk for this diagnosis. But, if I did, tamoxifen wouldn’t work particularly well in me. Here’s what’s scary: genetic testing for the CYP2D6 gene is not routinely done before women are put on tamoxifen. So, there is a population of breast cancer patients who are currently on ineffective therapy…and don’t know it. Hello?

Carrier Status: The panel includes testing for 37 carrier states–conditions that can be carried silently in a family for generations, only to be discovered when two carriers have a child with the condition. I am a carrier for hemochromatosis, a liver storage disease.

Practical application: The only carrier state I ever worried about and got tested for when I was pregnant was thalassemia (Mediterranean anemia). But hemochromatosis? News to me! I am completely healthy since there is only one copy of the gene present. Since my reproductive life is over (hallelujah!), there is nothing more for me to do. However, each of our daughters has a 50% chance of having the trait and pre-natal testing for this condition will be critical.

Complex Health Conditions: The panel looks for SNPs, short genetic sequences, that are associated with risk for developing 24 different complex conditions. I have no increased genetic risk for any of them. Just for clarification, these results mean I have average risk, not zero risk.

Practical application: I clearly won the genetic gamble and got a healthy deck by my parents. (Thanks mom and dad!) I found myself making some subtle behavior changes: one less glass of wine, stocking my travel bag with calcium and vitamins so that I don’t miss doses when I am traveling–because I feel even more responsible to maintaining a healthy lifestyle.

If, on the other hand, I was at increased risk for any of the conditions, this information would have helped me focus on the prevention, screening and lifestyle choices that mitigate that risk. Without this focus, being “healthy” means complying with a long list of sacrifices:

Eat healthy
Exercise daily
Wear sunscreen
Consume no more than 1-2 alcoholic drinks per day
Avoid red meat
Sleep 7-9 hours per night
Get 15 minutes of sunlight a day
Eat a low cholesterol diet
And on and on…..

Frankly, I can’t live in a sterile, sinless bubble. You probably can’t either. It’s understandable that so many people hopelessly throw in the towel and do nothing. So, for me, the results offer some leeway in those areas where my body might be able to tolerate some extra indulgence.

Convinced?

For those of you who are still uneasy about learning something you don’t want to know: Do you avoid having blood tests at your doctor’s office because they might diagnose something you don’t want to know? Of course not. Why is this different?

For those of you who are nervous about your personal genetic history being on the internet and having your privacy violated: Who really cares about your personal genetic history other than you, your family, and the people that love you? Strangers would much rather know about the details of your bank account.

For those of you who are nervous about your insurance or employer using the information against you: The Genetic Information Nondiscrimination Act (GINA) was signed into law in 2008. It protects Americans against health insurance and employment discrimination based on their genetic information.

So, just do it!
Stop the Drama and Spit!

Create Health,
Archelle

Note: The image in at the top of this blog was provided by Lynn Fellman who creates fine art that is inspired by the science and stories that are revealed by our DNA. More of Lynn’s art can be viewed at www.FellmanStudio.com.

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.

As an example, the National Human Genome Research Institute’s (NHGRI) Ethical, Legal and Social Implications (ELSI) Research Program was established in 1990 as an integral part of the Human Genome Project (HGP) to foster basic and applied research on the ethical, legal and social implications of genetic and genomic research for individuals, families and communities. In October 2002 members of the research consortium working on the International HapMap Project took steps to try to ensure that the map will be designed, developed and used in a manner that is sensitive to the ethical, legal and social concerns raised by genomics research.

In 2010, we face questions of informed consent; patents; commercialization; secondary uses of data; and personalized medicine.  In 2010, access to complete genome sequencing is scientifically plausible and technically feasible.   The U.S. Patent and Trademark Office (PTO) has been issuing patents on human genes for over 20 years, giving private corporations, individuals, and universities exclusive rights to those genes and to test, study, or even look at them. This is the first time a court has said that this practice is unlawful. (see: Judge Invalidates Human Gene Patent JOHN SCHWARTZ and ANDREW POLLACK March 29, 2010 New York Times; see also: Who Owns Your Genes? You Do).

To what extent can we anticipate and identify the various ethical, legal, and social issues associated with the conduct of research and with advances in science and technology? Maybe in 1951 a key question was who owns our tissue samples.  In 2010, the questions remain eerily similar to those in 1951:  Who owns our DNA; who owns the patents of genetic sequences; who owns the data in health information marketplaces; who owns the data in health insurance exchanges?  What are the implications of pharmacogenomics? (see: Is the DNA patent dead? March 30, 2010 CNN).

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.

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.”

I finally understand the quirkiness in how I was raised….why my mother only emphasized a belief in God (vs the Holy Trinity) and never served a pork loin. I feel “related” to my husband, his family and a people that I have been emotionally been connected to throughout my life. Do I feel any less Greek? Of course not. But, I do have a new sense of wholeness because “they” are me.

As many of us celebrate Passover and/or Easter this week, remember that “they” could be you. Whether you explore your roots through stories, historical research or genetics, the knowledge you gain helps you deepen your understanding of yourself. Too often, we don’t question who we are. We don’t challenge or debate the status quo. But, if you take the time–and have the courage–to analyze, interpret, and making meaning of the origin of your values, beliefs, and traditions, you will have the opportunity to actively choose who you are. And, if you give yourself the freedom to embrace those beliefs that “fit” and distance yourself from those that don’t, you can honor your past while being true to yourself. Happy Holidays.

Create Health,
Archelle

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?

A: At the time, I was a manager at a large construction firm in Boston. I was involved with building the hospital, university, and biotechnology infrastructure of Boston and Cambridge through the 80s and 90s. I had a sense of the physical manifestation of health care delivery, drug development, basic research facilities, animal studies, and the emerging biotech boom that characterized that hotbed era in Genetown. So I needed to convert my experiential knowledge of what was above the ceilings and behind the walls to help my kids. So as a lay person I went about learning the science and medical lingo necessary to begin to understand how you would create a project management plan to tame a genetic disease.

I began to insert myself into places I was not qualified to be in. I encroached onto the world of scientists, researchers, and clinical investigators. I had unique access because these were “my” facilities. So after my work day in construction, I volunteered and joined prestigious research groups working from 6pm to 2am in the lab to learn alongside brilliant doctorial students. It was hands on learning about what genetic and basic biomedical research entails. My sleep habits were destroyed from then on. But, I also became absolutely fascinated with the new science of genetics and genomics. I got the sense that this technology and science would have irreversible effects on most things in the century ahead. I was only slightly correct. It has turned out to have a much larger impact. Genomics has shaped my career ever since.

Anyhow, we created a patient directed research foundation and we went on to organize an international biobank, patient registry, longitudinal studies, find the causal gene for my children’s disease. Patent it. Create and license clinical diagnostics. Create animal models. And finally launch human clinical intervention trials for the disease. It’s been an exciting few years.

We are now working at creating an industrialized system to tackle small molecule drug develop and clinical studies for rare and neglected diseases in a systematic way never attempted before. The next few years will be exciting too.

Q: You’ve done so many different things in the health care arena in such a short time, what’s the secret to your success?

A: My Mom says, I was just lucky… Thanks, Mom!
But I think it has a lot to do with trying to live life with a fearless attitude. Failure is an option, in some circumstances it is the most likely outcome. But I say, so what? I chose action and risk failure. I rush in and do things I think need to be done on things that matter. I have a belief, that if I’m always working to help alleviate human suffering and the burden of disease in this world then I want to make sure I’m exhausted at the end of each and every day. Hopefully I have a positive impact.

Q: What do you think about these achievements?

A: I’ve been blessed with wonderful and insightful children (excuse me, they are young adults now). Because of them I have become the person I am today. They helped me become a better Dad. That is the greatest achievement. We all traveled the world together to help organize the international disease community and help people around the globe. The most gratifying achievements have been helping various disease groups do the same thing; find genes, create diagnostics and therapies, as well as delivering services to patients in all kinds of circumstances. Helping folks do it faster and better than I did it. I can’t imagine doing anything else.

Q: What do you think your experiences mean for the future of health care?

A: I am Just a Dad. I got engaged as an advocate and information empowered lay person. I did nothing earth shattering. I just incorporated the emerging technologies that are available to most Americans –the internet, social networking, shared knowledge, the power of self organized groups and a desire to solve a problem. It’s a simple but powerful equation.

I believe as collective health literacy improves and the challenges continue to confront the financing and delivery of health care in this country there will be a catalyzing effect that will produce more empowered, disruptive men and women in health care.

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.

What has changed to bring this hope? A race – a race in scientific innovation and technology occurring here in the United States – the race for the $1,000 genome. Indeed this race has been spurred by a concerted effort of both private and public investors seeing the scientific opportunity and capturing the momentum by bringing together scientists from a diversity of disciplines to deliver new, world-class, cutting-edge technologies that are allowing us to sequence individual human genomes with a cost well below $50K and ever decreasing. I can see the $1000 genome on the horizon.

I have had the good fortune to be part of this race over the last two years. Working at my company, Helicos BioSciences, I believe my colleagues represent the best and brightest of this country’s scientific inventors. Doing what many before us failed to do, we have brought the field of single molecule DNA sequencing to the world. Helicos is the first and only commercial company (so far) taking a simple publication read in 2003 and bringing the science and technology forward in six quick years to offer research scientists and physicians an unparalleled opportunity to sequence individual molecules of DNA!

So when someone asks whether the United States can stay at the forefront of scientific innovation, just look to companies like ours … a company with a passion to deliver something that had only been imagined. A group of scientists who see the opportunity presented to sequence thousands of genomes to better understand the biology of one person’s tumor and are attempting to turn this into a reality. I’ll take that opportunity again and again and when someone asks whether you think that innovation in the United States lags behind the rest of the world – please feel free to send them my way!

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