In the not-so-distant future, genetic testing will be a routine part of medical care. Doctors will screen for genes that influence your risk of heart disease, Alzheimer's, or diabetes. They will perform genetic tests to see how--or whether--you will respond to a particular medicine. (In fact, in some cases they already do.) It's not hard to imagine a future in which whole genome sequencing--that is, having your entire genome read out, not just a particularly juicy bit--will be routine at birth.

You may have begun to ask yourself: How much do I really want to know about my genetic destiny? But the focus on personal decision-making has obscured the legal and ethical questions that we must grapple with as policymakers and as a society. As researchers working at the intersection of law and cutting-edge medicine, these are the questions we struggle with every day. Here are our top ten legal and policy challenges that we must address as a society if we are to truly reap the benefits of genetic testing:

1. Privacy/Discrimination: Many patients are concerned about the confidentiality of their genetic test results and the potential for discriminatory use. The Genetic Information Nondiscrimination Act (GINA) prohibits employers and health insurers from using genetic information to discriminate, but does not extend to life and disability insurance or to other important molecular test results that do not fall under GINA's definition of "genetic information." Surreptitious DNA testing, in which anyone can secretly collect and test your DNA from a drinking cup, straw or licked envelope, also raises privacy concerns, as many states currently have no protections against police or private parties testing others' DNA.


2. Liability: New medical technologies result in increased errors and omissions, unrealistic or unfilled expectations, and disparities in adoption and implementation--all of which are already leading to lawsuits. As genetic testing becomes the "new normal," doctors face the most liability, but drug manufacturers, genetic test developers, testing laboratories, insurers, and even pharmacists will also be vulnerable. It remains to be seen whether these liability pressures will create incentives for diligent care, or will encourage less favorable responses such as defensive medicine, whereby doctors conduct excessive tests and procedures to protect themselves against potential lawsuits rather than because they are medically warranted.


3. Data Ownership and Management: Data is the lifeblood of genetically personalized medicine. To detect correlations and patterns that can be used to individualize care, researchers will need access to the personal genetic, lifestyle, and health data of tens if not hundreds of thousands of patients. How will these data be stored, owned, and controlled? Will patients allow researchers access to their information for research purposes? How will the data be protected against accidental release or hacking?


4. Patents: Patents are intended to promote innovation, but have stirred controversy in the genomics field when applied to naturally occurring genes, molecules, or biologic patterns. Over 20 percent of human genes are already patented, but courts are currently divided on whether those patents can actually be enforced. (Editor's note: On Monday, the Supreme Court ordered an appeals court to reconsider its ruling that two genes associated with breast cancer and ovarian cancer could be patented.)


5. Physician Participation: Doctors will be the key gatekeepers to most new genetic technologies. If doctors do not use these new tools, patients will not benefit from them. There are nowhere near enough genetic specialists to handle the genomic revolution, leaving the onus on other providers to learn genetics as it relates to their fields. Yet most doctors have little or no formal training in genetics, and many are reluctant to adopt new genetic technologies.


6. New Regulatory and Reimbursement Models: Traditional regulatory and reimbursement models do not take into account the complexity and novelty of new personalized medicine approaches, resulting in delays in bringing the products to market and difficulties in receiving appropriate payment from insurance companies. We will need creative new approaches to ensure that these novel products are safe and useful while not imposing undue costs, delays, and uncertainties.


7. Patient Education: The availability of genetic profiling will force us to consider how much information we want to know about ourselves and how that information will affect decisions about lifestyles, reproductive choices, financial planning, and medical interventions. Patients will need to understand the meaning and implications of these new types of data to make informed choices. Where will this education come from?


8. Direct to Consumer (DTC) Genetic Tests: Some companies have started selling genetic testing services directly to consumers. Critics argue that these tests should be available only through a doctor, in part because some DTC tests provide misleading results. Proponents of DTC testing argue that consumers should be able to access their own genetic information without having to incur the costs or confidentiality risks of obtaining their results from a doctor.


9. Disclosure of Genetic Results: Whole genome sequencing will reveal hundreds of variants in each person, many of which will have uncertain clinical significance. Should all genetic test results be returned to patients, or only those "actionable" findings for which practical steps can be taken to reduce risk? Will there be sufficient expert personnel to explain the meaning of genetic test results to patients? Is meaningful informed consent possible? When, if ever, should genetic information be disclosed to minors? Should genetic test results also be communicated to patients' relatives who may share the same traits? If so, who has the duty--the patient or the doctor?


10. Behavioral Genetics: Genetic research is not only identifying traits that affect disease risk but also is discovering genetic variants that influence our personalities and intellectual, athletic, and artistic capabilities. How will the expansion of this sensitive new information affect education programs, workplaces, and the criminal justice system, among others? Already such behavioral variants are being presented as mitigating factors in criminal trials, demonstrating that behavioral genetics is no longer science fiction.

For more on the personal and policy decisions raised by genetic testing, watch NOVA's Cracking Your Genetic Code, premiering Wednesday, March 28 at 9 p.m. on most PBS stations. Please check your local listings to confirm when it will air near you.

I had just stepped off my broom at the Quidditch World Cup after losing in the quarterfinals when I got the call: "Your grandmother isn't going to make it. You need to come home." It hit me hard, but I wasn't entirely surprised. After all, it was her third cancer. It wasn't until after my grandmother passed, when my aunt was diagnosed with uterine cancer and I discovered that my great-great-grandmother had died from stomach cancer, that a voice from my genetics class started ringing in my head: "Genomics... genetic inheritance... ethical decisions...do you really want to know?"

As genetic testing becomes more accessible, more people will not only consider testing, but also have to understand the immense responsibility and ethical decisions surrounding their results. I am currently at that genetic crossroads, and I am not sure which path to take.

My maternal family history includes two incidences of gastrointestinal (GI) cancer, one a rare form; one case of breast cancer; and one diagnosis of uterine cancer. It was the diagnosis of uterine cancer that led my aunt to consider genetic testing. When I heard my aunt was considering genetic testing, I knew her decision affected me as well. To learn more about the decisions ahead of me, I visited the Massachusetts General Hospital Cancer Center, where genetic counselors assess patients' risk and help make the process of decision-making easier by providing options, a support system and advocacy for families.

My family history suggests that I could be at risk for inheriting the BRCA and Lynch syndrome mutations. BRCA 1 and BRCA 2 are tumor suppressor genes; a person who inherits a mutated BRCA gene no longer has that safeguard against tumors. BRCA is an autosomal dominant gene, which means parents with the mutation have a 50 percent chance of passing it on to their children. In an article published by the Journal for Woman's health, Stanford researchers have estimated that women with a BRCA mutation have a 60-85 percent lifetime risk of getting breast cancer and a 40-50 percent lifetime risk of getting ovarian cancer. Women without these mutations only have a 12 percent lifetime risk of breast cancer and a 2 percent risk of ovarian cancer.

Lynch syndrome, on the other hand, is comprised of five different genes that affect the GI tract in a manner similar to the way that BRCA affects the breasts and ovaries. These genes are also autosomal dominant. A positive result for Lynch syndrome means a 60-85 percent lifetime risk of colon cancer and a 40-65 percent lifetime risk of uterine cancer as well as a heightened risk for other GI cancers. In the general population, the lifetime risk of colon cancer is five percent and the lifetime risk of uterine cancer is two percent.

Some indicators of a potential mutation of these genes are several related cancers in a family, early onset of cancer, rare cancer diagnoses and people with multiple cancers. So, it is easy to understand my concern, not only for myself, but also for my family.

As genetic counselors Devanshi Patel, Janette Lawrence and Meredith Seidel explained, the first thing I need to consider is my insurance. The Genetic Information Non-discrimination Act (GINA), which went into effect in 2010, made it unlawful for health insurance companies or employers to discriminate against a person because of genetic test results. However, this does not apply to life insurance or disability insurance. Genetic counselors may suggest that patients secure life insurance before they sign up for genetic testing. As a potential patient, I will also need to know whether my insurance company covers genetic testing and counseling. Many companies cover it for people already diagnosed with cancer, but charge (over $5,000 full price) for diagnosing the BRCA and Lynch syndrome mutations in those without a cancer diagnosis.

I will also need to consider what health care choices I might make if I test positive for one of these mutations. First, I could elect to get health screens (such as mammograms and colonoscopies) earlier and more often. Getting colonoscopies yearly could reduce the risk of getting colon cancer to almost zero because it is gives doctors a chance to spot growths before they become malignant. I could also choose to go further and have prophylactic surgery--that is, have my ovaries removed--some time before I turn 35. That drastic measure reduces the risk of ovarian cancer to four percent. However, the genetic counselors explained, that intervention cannot start for a young woman until she is 25.

I will also need to consider the implications for my family members. I am lucky that my family is very close and open with each other. Often, the genetic counselors have to help patients write letters to estranged family members to alert them that they are at a high risk of cancer. In my family, the most likely person to get tested would be my aunt, because she already had cancer. If she tested positive for BRCA or Lynch syndrome, it would mean her two children have a 50 percent chance of inheriting either mutation. Although one of her children is male and breast cancer is rare in men, his lifetime risk of breast cancer would rise a hundred-fold and he would have a 50 percent chance of passing the BRCA mutation or Lynch syndrome to his offspring. If she tested negative, neither of her children would have inherited a mutation from her.

The next person to get tested would be my mother, and her results would have the same implications for my brother and me. If she tested negative, my brother and I would not inherit a mutation from her. However, a positive result for either my mother or my aunt could also have implications for my extended family. For example, if my aunt tested positive it would mean one of her parents--my grandparents--is positive as well. My grandparents' siblings would then also have a 50 percent chance of inheriting the mutation, meaning that my cousins could have the mutation as well. Additionally, if siblings get tested together, one sibling may have the mutation and the other may not. This can open up a Pandora's box of emotions from devastation to relief and from "survivors guilt" to resentment.

Finally, I will need to consider the implications for my future family. If I test positive for a mutation, it could mean rushing into relationships or having children too early. The genetic counselors at MGH told me that some parents-to-be choose in vitro fertilization so that they can have multiple embryos screened for cancer-causing mutations. Only those that do not have the mutation are implanted, thus ending the mutation in their family line forever. However, procedures like this are highly controversial and can cost more than $20,000.

Sitting in that genetics class the fall of my sophomore year, I never would have thought that what I was learning would pertain so directly to me someday. The MGH genetic counselors ask their patients, "If you have a genetic mutation with a chance of intervention, what would you do with that information?" Would you completely alter your life? Your family's lives? Or would you use the information to empower your decision-making?" I know I have asked myself all of these questions and weighed my options, but my genomic future still isn't clear. As genetic testing becomes more accessible, it's about time we all ask ourselves: What will we do with that information?

For more on the personal and policy decisions raised by genetic testing, watch NOVA's Cracking Your Genetic Code, premiering Wednesday, March 28 at 9 p.m. on most PBS stations. Please check your local listings to confirm when it will air near you.

David Pogue. Image via davidpogue.com

As Executive Producer of NOVA scienceNOW, I'm delighted to share the news that David Pogue, the New York Times tech guru who is well known to viewers of NOVA's "Making Stuff" series, will be joining us as the host of NOVA scienceNOW's new season when it premieres this fall. Our publicity team has written up a press release with a few sneak peeks at what we have planned this season; you'll find it right below this paragraph. We hope you'll help us share the big news!

PBS' NOVA scienceNOW NAMES DAVID POGUE AS NEW HOST FOR SCIENCE MAGAZINE SERIES IN 2012

Renowned New York Times Tech Reporter to Join Critically Acclaimed Series in Launch of Season 6 This Fall on PBS Stations Nationwide

March 15, 2012 -- NOVA scienceNOW has named David Pogue, popular technology reporter for The New York Times, to host the critically acclaimed science magazine series, senior executive producer Paula S. Apsell announced today. Pogue has signed on to the series beginning this fall with the launch of Season 6, premiering in October 2012 at 10 pm ET/PT on PBS.

David Pogue is already a familiar face to audiences of the flagship NOVA series with recent stints hosting the highly watched four-hour miniseries on materials science, Making Stuff (PBS, 2011), viewed by 14 million people, and the upcoming two-hour special program, Hunting the Elements, premiering on NOVA on April 4, 2012.

Pogue is the third host tapped to helm the acclaimed series. Prior hosts include TV and radio news correspondent Robert Krulwich, who originated the role for the series' inaugural season in January 2005, and astrophysicist Neil deGrasse Tyson, who took the reins in October 2006 and hosted seasons two through five.

"We are thrilled for David to join the NOVA scienceNOW team as host, reporting stories from the frontiers of science and technology," said Apsell. "David's engaging personality and tireless enthusiasm, as well as his natural curiosity as a tech journalist, all add up to a passion for storytelling and an ability to bring viewers on a fast-paced ride through some of the most intriguing stories and breakthroughs of our time."

Featuring four stories in each themed episode, the new season of NOVA scienceNOW, which is produced by WGBH Boston, will again tackle an array of thought-provoking topics on people's minds, such as "How Smart Can We Get?"--in which Pogue finds out how the anatomy of his brain measures up to Albert Einstein's; "What Are Animals Thinking?"--when the tech-savvy host races against homing pigeons without the aid of his iPhone's GPS; and "Can Science Stop Crime?"--in which Pogue tries to outsmart computerized lie detectors.

Other stories will follow Pogue as he discovers how much Neanderthal DNA he's carrying, meets the inventors and engineers working to create mind-reading machines and thought-controlled video games, ventures into secret labs and kitchens to uncover the hidden truths behind the mouth-watering flavors and textures we take for granted each day, and much more.

Following the weekly NOVA broadcast on Wednesday nights, the NOVA scienceNOW series will create a block of primetime science programming for viewers this fall on Wednesday nights from 9-11 pm ET/PT on PBS.

David Pogue Brief Biography

Perhaps best known as the weekly technology columnist for The New York Times, David Pogue also writes a monthly column for Scientific American. In addition, he is an Emmy Award-winning tech correspondent for CBS News,and his trademark comic tech videos appear each week on CNBC. Pogue's Twitter followers number more than 1.4 million.

With more than three million books in print, Pogue is also one of the world's best-selling how-to authors. He has written or co-written seven books in the "For Dummies" series (including Macs, Magic, Opera and Classical Music); in 1999, he launched his own series of complete, funny computer books called the "Missing Manual" series, which now includes 120 titles.

Pogue graduated summa cum laude from Yale in 1985, with distinction in music, and he spent 10 years conducting and arranging Broadway musicals in New York. He has won an Emmy, a Loeb award for journalism and an honorary doctorate in music. He has also been profiled on "48 Hours" and "60 Minutes."

Funding for NOVA scienceNOW is provided by the National Science Foundation, the Howard Hughes Medical Institute, the Alfred P. Sloan Foundation, the George D. Smith Fund, and public television viewers.

Pressrooms pbs.org/pressroom

Eileen Campion Roslan & Campion Public Relations 212.966.4600 Eileen@rc-pr.com

Karen Laverty NOVA National Promotions 617.300.4382 Karen_laverty@wgbh.org

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Last week the world of science lost one of its giants, and a great friend to NOVA.

Standing 6 feet 5, Dr. F. Sherwood Rowland, of the University of California at Irvine, brought enormous courage to groundbreaking work in chemistry that would ultimately be recognized by the 1995 Nobel Prize.

In 1974, working with his colleague Dr. Mario Molina, Rowland discovered that chlorinated fluorocarbons, or CFCs, used in aerosol sprays and coolants, had the potential to damage the Earth's ozone layer. This thin layer of gas 30,000 feet up in the stratosphere protects life on Earth from the harmful UV radiation that can cause skin cancer.

For years, the team's findings were regarded with skepticism by the scientific community. But Rowland did not shrink from speaking out on the potentially catastrophic consequences of the theory, and he strongly advised politicians and activists to push for a ban on CFCs.

A decade later, British scientists working in Antarctica proved Rowland and Molina right. With a ground-based instrument, they showed that each spring, when the sun emerged following the long polar winter, ozone levels would plunge dangerously low for several months. NASA's satellite measurements revealed the hole to be as tall as Mt. Everest and as wide as the continental United States.

No one knew what the ozone hole portended for the global ozone layer--and CFCs were chemicals that could stay in the atmosphere for 100 years. It turned out that the recurring ozone hole would be an early warning that catalyzed a global environmental treaty.

I first met Rowland in the fall of 1986, while we were producing a NOVA program on the National Ozone Expedition to Antarctica--a scientific team with the urgent mission of solving this complex puzzle of atmospheric chemistry. I remember him saying, "We've got to make hay while the sun shines." He understood that public attention on environmental issues was easily diverted and hard to sustain.

In 1987 NOVA broadcast "The Hole in the Sky," one of the world's first documentaries on ozone depletion and global warming. The program also tracked international progress toward the landmark Montreal Protocol--a global agreement to stop the production of many ozone-depleting chemicals. As Molina would later say, "We started something that was a very important precedent: people can make decisions and solve global problems."

Making complex scientific discoveries is a great contribution. Explaining what they mean to the world's future takes strength and commitment, which Sherwood Rowland had in abundance. Today's discussions of climate change could use more voices like his.