The even shorter version goes like this: Why would I give anyone my genetic information if that might lead to myself and my family being denied insurance or paying higher premiums, for medical, life, or longterm care policies?
Fans of genomic medicine are apt to respond by saying there's no need to worry because there are laws to prevent that type of discrimination. To which I have heard many people say: I don't trust the insurance companies and/or the government to abide by those laws. And besides, laws can be repealed, and databases can be hacked.
In short, when it comes to enjoying the benefits of medical science, Americans face a bleaker future than the residents of other wealthy countries due to the absence of two rights: the right to health care and the right to privacy.
Who am I to present these arguments? For more than 25 years I've been studying information security, data privacy, and risk. I've been a Certified Information System Security Professional for more than two decades and I have a Master of Science degree in Security and Risk Management. I have also put in more than a decade as primary caregiver for someone with a genetic illness (variously known as hereditary hemochromatosis, genetic haemochromatosis, Celtic Curse, Bronze Diabetes, Iron Overload). In that role I have spent many years interacting with the families of hemochromatosis patients and the main support group for this condition, the Iron Disorders Institute.
What is the problem? The House recently passed legislation called the American Health Care Act of 2017 (H.R. 1628). There is a Senate version known as the Better Care Reconciliation Act of 2017. As far as I know, both of these pieces of legislation remove a gene-related provision of the current law, ACA (a.k.a. Obamacare). Here's the problem:
- The Genetic Information Nondiscrimination Act of 2008 a.k.a. GINA says employers and health insurers can't use your genetic data in hiring decisions and health insurance coverage; but, as Maryam Zaringhalam at Slate points out: life, disability, and long-term care insurance are not covered under GINA’s provisions, and those insurers "already use genetic testing results to deny coverage to otherwise healthy individuals".
- Furthermore, GINA only protects people who are genetically predisposed to a disease as long as they are asymptomatic. In other words: "once a person begins showing symptoms, GINA no longer matters" (Zaringhalam- see link in References below). For example, my wife was born with the HFE mutation that can produce a potentially fatal condition known as iron overload but she was asymptomatic for the first few decades of her life. Then, in her forties, due a phenomenon dubbed hemopause, she became increasingly symptomatic. She is now eminently "declinable" under pre-Obamacare rules.
- This GINA "loophole" as Zaringhalam calls it, was closed by Obamacare. That's because the ACA outlawed discrimination in health care insurance pricing or coverage based on preexisting conditions.
- Now the current administration looks set to return America to the days when preexisting conditions were considered grounds for charging higher insurance premiums.
- That would mean returning health insurance to the list of things you pay more for if your insurer has knowledge of your genes. Remember, that list already includes life, disability, and long-term care insurance.
I would be the first to admit that the above is a simplified account of the problem, but I stand by its accuracy and will go into more detail below. A complicating, and possibly offsetting factor in this story is the plethora of state laws on genetic data, medical privacy, and health insurance. Those might give you hope, but then you have to factor in the rampant hacking of supposedly private databases of personal and medical information that we have witnessed over the past few years. Bottom line? It is not hard to understand a response of "No way!" when you suggest to someone that they should get their genes tested, even when that test could potentially save their life, or those of their relatives.
And the AHCA/BCRA may not be the extent of genetic meddling by the current administration. Legislation has been proposed that would enable employers to charge employees a prohibitively higher premium for employer-provided healthcare if the employee does not share his or her genetic data. Check out HR 1313 and some of the articles about it that I have listed below.
Healthcare's genetic dimension
The following statement should concern every company and investor in the field of human genomics: if the current administration's stance on preexisting/genetic conditions does not change, then other countries, the ones with universal healthcare, will continue to tap more and more of the benefits of genetic science, even as misguided policies in America continue to cripple genomic medicine.
Those short-sighted, science-constraining policies include charging some people more for insurance than others, based on their DNA. While many Americans have a vague notion that genetic discrimination is illegal in America because of GINA, the reality is quite different, as I pointed out above. GINA already allows insurance companies to charge you more for long-term care policies and life insurance policies (think about that if you plan on getting old in America, or want to use life insurance to provide for loved ones when you die). And I know from personal experience that GINA is not as reassuring to people with genetic conditions as its advocates had hoped (as I will explain in a moment).
Fortunately, the country took a step in the right direction when Obamacare closed the GINA health insurance loophole. The medical benefits of prohibiting health insurance pricing and coverage based on preexisting/genetic conditions are obvious: the more that doctors know about your genetics, the better placed they are to care for you. The more you trust that your DNA won't be used against you, the more likely you are to share that information.
That expansion of genetic knowledge, personally and in the aggregate, is the direction science has been taking since DNA was discovered. Take hereditary hemochromatosis. Known as HH for short, it also used to be called bronze diabetes because it can turn your skin orange and cause diabetes. If HH is not properly diagnosed and treated it can kill you (unless you kill yourself first - think of all the health problems that the great American writer Ernest Hemingway suffered from before he shot himself - he suffered from undiagnosed bronze diabetes).
Discovery of the genetic basis for HH in 1996 revolutionized care for this condition. By testing the genes of people with HH symptoms, the condition could be definitively confirmed and thus appropriate treatment could be confidently prescribed. Fortunately, the basic treatment is to draw blood, and if your HH is diagnosed soon enough and doctors respond appropriately your life expectancy will not be decreased.
But wait there's more, discovery of the genetic basis of this condition made it possible to calculate how many people might have the mutation. Scientists dubbed the mutation HFE and they found several variants, known by memorable names like C282Y and H63D. By testing the DNA of sample groups of people, researchers could extrapolate the prevalence of HFE mutations and carriers. It turns out that about 1 in 250 white Americans are susceptible, particularly those with Northern European ancestry.
All of which is valuable data to improve the fight against HH. If someone is diagnosed with HH, family members can be tested and those that are susceptible can make prophylactic lifestyle changes (reducing their consumption of alcohol, red meat, and tobacco for a start). I have heard many cases where the diagnosis of one family member helped improve the health of several relatives, and will continue to do so for generations to come. For some genetic conditions it is conceivable that they could be entirely eliminated over time.
How to handicap genetic medicine in America
Unfortunately, before Obamacare, insurance companies could delay, and/or charge more for, medical coverage of preexisting conditions. So a lot of people that I met in the iron disorders community before 2010 were very reluctant to get genetically tested. Let me explain why that is not good. I don't mean that those people are not good. These are good people put in a bad situation.
Suppose you are concerned that something like HH runs in your family. This mutation can cause your body to retain excess iron that damages organs like the liver, heart, and brain, as well as joints. If untreated it can kill you. On the other hand, if you know you inherited the genetic mutation responsible for HH then you can adjust your lifestyle to reduce the chances the condition will express. Furthermore, you can request an annual check of your iron (ferritin) levels to detect any increase above normal (ironically, ferritin levels used to be checked routinely before 1996, revealing hidden cases of HH, but now your doctor may need to suspect HH before ordering).
I hope it is becoming clear that unless America firmly and for all time bans discrimination in healthcare coverage based on genetics or preexisting conditions, American scientists are going to struggle to get the genetic data from Americans that they need to improve medical treatment. To be clear, this is about everyone, not just those with a genetic condition like HH. Suppose you get cancer caused by exposure to some carcinogen or other. These days the efficacy of many forms of cancer treatment can be enhanced by knowing your genetic makeup. But what if that genetic makeup can also be mined by insurance companies who have a financial incentives to find out what else might be wrong with you? Do you one day find yourself a cancer survivor who is uninsurable due to some hereditary genetic mutation.
Why our caring needs to be universal
Charging different medical insurance premiums for different groups of people makes no sense if your goal is to create a civilized society based on the principles of equality and liberty and justice. Ever other "developed" country has accepted that the best way to provide the best care to the most people at the most bearable cost is to have the same premium for everyone, paid according to means.
To be clear, that means everyone is obliged to pay something, regardless of age, gender, geography, profession or preexisting conditions. For example, if I earn a higher than average salary, I pay closer to 100% of the premium than someone who earns less than me. That is the case today when it comes to covering the cost of defending the country or educating its children. Defense and education are universal needs and we accept that we all have to pay for them as best we can. People who don't have children still have to pay school taxes, and so on.
I would argue that we are never going to realize the full benefits of genomic medicine if the country does not enshrine into law a right to medical care, the cost of which is not dependent upon our health status. For example, in the country where I grew up, the cost to me of my medical needs as a healthy 20 year-old college student was the same as the cost for my 50 year-old father, who died of cancer: zero out of pocket costs, no co-pay, no deductibles, just a monthly contribution based on earnings.
One group of Americans will be particularly hard hit by any fresh obstacles to genomics: those who suffer from rare diseases. As this Financial Times article makes clear, large scale genetic studies can find cures for rare diseases. But can such studies scale appropriately in a society fearful of what genetic data sharing might mean to one's financial future? Organizations like NORD, the National Organization for Rare Disorders are clearly concerned and you can bet they are organizing against anything the current administration might do that impacts victims of rare disorders.
Why we need universal privacy protection
Along with universal care, we need a universal presumption of privacy for our personal information. In all EU countries, your personal information enjoys protections under the law and as a right. In the US, the question of whether your personal information is protected is unclear, in other words: it depends, on the nature of the information, its location, your location, even your status in society (see my white paper referenced below). Suppose you borrow a book from the library. Is that information protected? The answer in America is: that depends. There is no US federal protection of your library lending records. There is no explicit right under which they are protected. However, most states do have library record privacy laws.
Where the lack of a right to data protection in the US really bites is new forms of data. When people started to rent videos, the records of what you rented were not protected until congress passed the Video Privacy Protection Act of 1988 (VPPA). That only happened after politicians realized how embarrassing the revelation of an individual’s rental records could be (as demonstrated during Judge Robert H. Bork's Supreme Court confirmation hearings, which directly led to the VPPA).
Similarly, information about your DNA was not protected until a law was passed (GINA). To be fair to the folks who study the human genome, they seem to have been, and remain, passionate and unanimous in their support of privacy protections. Sadly, that may not be enough to insure the success of genomic medicine in America. Beyond the research labs and the corridors of the academy there is a massive trust gap wth respect to genetic data. The gap will need to be filled even if Obamacare is not repealed.
If Obamacare is repealed and replaced with something that allows discrimination against preexisting conditions, with no plugging of GINA loopholes and carve-outs, then America's chances for a healthier future through genomics and personalized medicine will fade.
The cyber factor
Finally, it has to be said: even if the Obamacare protections for people with preexisting/genetic conditions remain unrepealed, the world of genomics is still going to have to deal with the erosion of trust in technology and institutions created by rampant cybercrime, whether that crime is committed for monetary gain, political advantage, or the sheer bloodymindedness of disaffected individuals. As a society we are feeling the negative effects of a constant barrage of headlines like this: “Over 113 million health records breached in 2015 - up 10-fold from 2014” (CSO Online).
Even specialized websites like Fierce Healthcare have a hard time keeping up with the data breach stories. Consider this from December, 2016: “More than 25 million patient records were reportedly compromised as of October 2016. And then, in November, the cases spiked: There were 57 health data breaches—the most in any one month this year.” These headlines are not confined to trade publications. Here is just one from the New York Times: "Millions of Anthem Customers Targeted in Cyberattack". Imagine reading that if Anthem has your DNA data.
The cumulative impact of cyber-badness on our faith in technology can be measured in several ways. Consider what happened when I asked 1,000 computer-using adults in the US if they thought problems with digital technology, like computer hacking and network outages, posed a risk to their security and wellbeing. Fully two thirds of respondents saw moderate or high risk (35% and 33.5%). Only one in five people said the risk was slight (19%) and only one in eight saw almost no risk (12.5%). Without an effective, globally-coordinated cybercrime reduction campaign, it is hard to see how these negative perceptions can be reduced.
One thing is certain, organizations active in genetic research and genomic medicine will need to be doubly secure in their handling of human DNA data. At the same time, they need to educate the government and the public about the need for a system of healthcare that fosters genetic research and genomic medicine, rather than inequity and fear.
- We’re About to Cripple the Genomic Medical Era - Article by former Chief Data Scientist of the United States Office of Science and Technology Policy:
- NIH page on Genetic Discrimination and Other Laws:
- Slate article: Thanks to Genetic Testing, Everyone Could Soon Have a Pre-Existing Condition: Which makes the AHCA’s removal of protections so much more frightening:
- The House health plan makes your genes a preexisting condition:
- The Future Of Medicine Depends On Protections For Pre-Existing Conditions:
- Fast Company article from 2016: If you want life insurance think twice before getting genetic testing:
- HHS secretary expresses concern on bill allowing employers to demand genetic tests:
- New Wellness Bill HR 1313 Gets Flak for Genetic Privacy Concerns:
- HR 1313: life-threatening law targets Americans with genetic defects:
- The American Society of Human Genetics (ASHG) opposes H.R.1313, the Preserving Employee Wellness Programs Act:
- National Organization for Rare Disorders:
- National Organization for Rare Disorders - Rare Action Network page on protecting healthcare coverage:
- Global Genes Global Genes is a rare disease patient advocacy organization:
- White paper on data privacy laws in the US: