So you sequenced your genome DNA - what's next? Part 2
This is part 2 of a series dedicated to discussing topics related to the steps to be taken or considered after you have sequenced your genome. The first part was devoted to the first priority when decoding your DNA for health reasons, and that is altering your medical management. Your doctor’s orders based upon DNA testing are also to be balanced by changes in your behaviour. First on the list is changing your lifestyle, and that includes your physical activity and diet. The other important considerations are looking at your insurability and the potential legal consequences, which are the topic of this post.
Insuring your own health to protect from potential DNA effects
Insuring ourselves against health outcomes is such an interesting topic, and shockingly obscure. We clearly know and understand the odds of certain adverse events happening to a random person. Becoming critically ill at some point in your life has one of the highest odds of probability, and yet, for the majority of people this topic does not even come close to consideration. People who provide insurance against critical illness, which is different from life or disability insurance, often mention how illogical it seems that, in general, we do not insure ourselves against something that has the highest likelihood of occurrence in the spectrum of what we typically insure for, be it disability, life, house, or car insurance.
The concept of critical illness insurance was a natural outcome of learning what the most common problems discovered when people sequence themselves are. Full genome sequencing for presumed healthy people is still fairly novel in our society. Historically, this technology has been reserved for decoding the DNA of severely ill people with unknown etiology, so there are still large scale studies coming out about what a typical population may present with if subjected to sequencing.
One excellent source in this regard that we have been following is the Gesinger’s MyCode Community Health Initiative, a precision medicine project at the Geisinger healthcare network in Pennsylvania and New Jersey that has, as of this moment, analyzed the DNA sequence of nearly 65,000 patients and reported clinical results to 1071 patients (providing only a 1.7% incidental findings rate, but only the subset of the genome is being analyzed for clinical relevance).
Another set of results comes from a more recent project termed The Healthy Nevada Project, put on by the Renown Health healthcare network in Nevada and an environmental studies organization known as the Desert Research Institute. They just recently announced their general population genomic medicine results, returning 290 reports out of 23,500 participants with an incidental findings rate of 1.23%, but that was based on only three conditions being analyzed. Follow the link for what an incidental findings rate based on the whole genome screening might look like. For most of the recipients of these results, there was no family history of the disease, and thus according to the current guidelines, they would never have been eligible for such testing in order to identify their genetic predisposition.
The most common uncovered problems are:
|Condition||% of Geisinger results||Geisinger study||Renown Health /
|Hereditary breast and ovarian cancer||27%||1 in 222||1 in 183|
|Cardiovascular risk||23%||1 in 267|
|Arrhythmogenic right ventricular cardiomyopathy||8%||1 in 785|
|Cardiomyopathy||7%||1 in 870|
|Arrhythmia||6%||1 in 991|
|Hereditary hemochromatosis||19%||1 in 317|
|Familial hypercholesterolemia||12%||1 in 515||1 in 205|
|Lynch syndrome||9%||1 in 638||1 in 500|
|Other cancers risk||7%||1 in 826|
As you can see, these are not some foreign, one-in-a-billion type of health problems that are uncovered; these are conditions that we are familiar with and that we have all heard about, but now you can actually diagnose yourself for these conditions, and take proactive steps. We already mentioned medical management options, and these common problems are all dangerous but all have some form of intervention available. So how much would you be willing to invest in order to find out if you fall into that category? On top of that, the most advanced clinical genome sequencing tests can look for thousands of disorders at the same time.
Here is the tricky part though: just because you are genetically diagnosed with a condition does not necessarily result in a concrete result, as the illness can vary dramatically in outcomes, from fairly mild to quite severe, and individual biology can add large variances to what we experience. This is akin to smoking. We all know smoking substantially increases morbidity and mortality outcomes, but everyone knows the story of some grandpa or grandma who smoked a pack of cigarettes per day for their entire life and lived to be 99 (smokers especially like to provide such observations of one individual and extrapolate it to the larger population with the hope that this will include them). And it's true! Some individuals will be resistant to the ill-effects of smoking, whereas others could be badly impacted just from second-hand smoke. Here too, however, genetics also seem to play an important contributing factor to lung health protection in smokers. So with all the other illnesses you can think of, the complexity of human biology will paint its own version of a genetic disease from person to person.
However, that is rolling the dice as to what degree of protection from disease manifestation you can expect, and if the condition is severe, it can have a big financial impact. One of the simplest ways to protect yourself from potential outcomes (and these are so common, and hence so likely, that this should be considered by everyone), is to protect yourself with a critical illness insurance policy. The only big question is how much, and to what degree, can you now hedge that question with sequencing? If you uncover a cancer predisposition, you might consider a bigger policy, as cancer can be diabolically expensive to treat, especially if you consider that there are novel approaches of cancer biopsy analysis available now towards strategizing treatment, and not all of it might be publicly funded. Of course we are referring to DNA sequencing of the cancer biopsy.
Insurance influences personal well-being
The evidence for how the lack of insurance, or more accurately, the lack of appropriate funds, can be detrimental to a patient suffering from a debilitating chronic condition (like cancer for example), is substantial. No one expects a diagnosis of a chronic disease, especially if there is no prior family history. But it happens. And when it happens, the available coverage can have literally life and death consequences. For example, one study of over one million cancer patients in California, diagnosed with either breast, prostate, colorectal, lung cancer, or melanoma, revealed that access to insurance affects the cancer survival rate. Those people who had no insurance had a much higher death rate than those with private insurance for all cancers except prostate. Access to Medicaid insurance improved the situation, but such patients still had higher mortality rates compared to people with private insurance.
Furthermore, people diagnosed with cancer are more likely to declare bankruptcy than those without cancer. One study showed that cancer diagnosis increases your risk of bankruptcy, by 2.65 times as compared to the rest of the population. But leaving cancer aside, two thirds of all bankruptcies in America are as a result of medical expenses! More than half a million families each year lose their financial wealth due to the impact of an unexpected illness and medical bills in the US alone.
And for something like cancer, the impact of the financial burden might not end with surviving cancer in the first place. Nearly 30% of cancer survivors report continuing financial difficulties, which were associated with a lower health‐related quality of life, the increased risk of depressed moods, and a higher frequency of worrying about cancer recurrence. Despite that, cancer survivors tend to fare better than those with chronic illnesses. While they might exhibit a similar rate of multimorbidity (the presence of co-occurring diseases), cancer survivors end up with a significantly better health-related quality of life compared to chronically ill patients. It just goes to show you how debilitating illnesses can be.
So what is to be done? Insurance, insurance and insurance!
If you plan to decode your DNA to learn about certain health predispositions or for disease diagnosis, then you should also consider how you will cope financially if you discover you have a serious condition.
We are fond of critical illness insurance precisely because it covers you for some of the most common conditions you are likely to come across with DNA testing for health problems. In Canada we even have the added advantage of a premium that can be added that allows you to pocket your entire investment after certain time! That's like putting money in the bank while getting access to insurance that you are most likely to need in your life. Another insurance we are fond of is a “loss of time” supplemental insurance that pays you for every day you need to take off of work to be medically treated. These two insurance policies are most likely to be utilized by you, including as a consequence of your genetic makeup. Finally, if you end up being diagnosed with a rare chronic illness or condition, that is where the disability insurance can come in.
You might wonder about your genetic results being accessed by insurance companies. In Canada, since May 2017, the anti-genetic discrimination law, has been passed, safeguarding your genetic results from being used towards the delivery of any goods or services. This means no person or institution can use your genetic results in any way in order to decide if you should be excluded from a service. In essence, nothing has changed, as genetic results would have been rarely used for such purposes prior to the law being passed, but now it is codified as a human rights violation in Canada. So you are good to go, and you can decode your DNA in the safety of the law that protects you and your family from genetic discrimination. You can even insure yourself after you do your genetic testing!
Long-term legal implications of DNA sequencing
This is still an unusual topic, because people have yet to grasp the immediate benefits of decoding their own health, yet alone using the information encoded in their DNA to plan for end-of life eventualities. But there are a few such situations that merit this deeper concept analysis. First and foremost, your DNA does not just benefit you. While the interpretation from the DNA code is personalized to you, your DNA could be useful to every closely-related family member who could require access to such information for diagnostic purposes. And this benefit can extend across multiple generations, so your kids could benefit from having access to your genome, and your kids’ kids and so on, for a few generations at least. Having access to the genome for multiple family members, especially across generations, allows one to track inheritance patterns which in turn can help with future diagnoses.
Eventually your genetic information that is passed on to your descendants becomes so diluted through the incorporation of new genetic information from the unrelated partners that produce children with your descendants, that your contribution becomes irrelevant for predictive purposes. But your children inherit approximately 50% of your genetic code, so your grandchildren will have 25% of your genetic information, and your great- grandchildren will still be sitting with a substantial 12.5%. Furthermore, you also have to consider that your siblings are 50% related to you, as are your parents; and that your grandparents, aunts and uncles are 25%, as are your nephews and nieces. Your cousins in turn are still 12.5% related to you. And if you have an identical twin, then you have hit the jackpot, as you are expected to be 100% genetically identical! And… their kids are 50% identical to you, and so on. Thus your genome information is potentially valuable to many individuals now or in the future, and even in the very distant future! If your grandchild or great-grandchild manifests with some suspected genetic disease, your DNA might help identify the genetic cause of the problem.
This means it is seriously worth considering how your genome sequence will be protected once you obtain it, who has the right to access it while you are alive, who in the family will inherit it upon your death, and whether you agree for your genome to be ever be publicly available or monetized. This is still an abstract concept, but your genome should be thought of as a physical object of value that is passed on from generation to generation, and this value should be prized and preserved in the family. Just like a cherished painting owned by a family, or a piece of real estate that has been held in a family for generations, which are valued and their ownership protected, the same sense of worth should be applied to the DNA data of your family members.
You need to consider this because as family members pass away, you will want to ensure that other members of the family can access the deceased individual’s genetic information, especially the data that is stored by the company that has done the sequencing and the analysis of your genome. We do recommend cloud storage by the parent company of a reputable source, as the family genomes the company will hold will always be updated with the most relevant and latest scientific interpretation of the genome, an important value to the entire family. But we also recommend that the family should have physical copies of these genomes on portable drives, well, in case that very reputable company disappears in an irreputable manner. The business world can be erratic, and complete safety cannot always be fully guaranteed. Better to be safe than sorry!
Eventually you can envision a situation where dozens and dozens of family members across the family tree might have their genomes fully decoded, all of it extremely precious for personalized medical interpretation within the context of the medical history of that family. If this is not properly thought out, you run the risk that the genome sequence will be lost and that the family will not be able to reap these rewards. Or get such information about the genome again as family members die.
This also means that tracking the detailed medical history of your family which can be assigned to the collected DNA tests is also extremely valuable. We as a society often do not place value on charting our own medical history pedigrees, but if you are planning to be DNA sequencing your family for health predispositions, or to help diagnose one of your family members for a specific, yet unidentified condition, then having your family medical history is also very beneficial. We can provide you with the tools to easily commence mapping your family history. Genealogy is often of such great interest to people, and while we thoroughly applaud the practice, we cannot stress enough how much more valuable such a family tree would be if it came with notes on personal health outcomes for each of the family members. If you follow our advice, and partake in this practice, the information that should be noted are gender, birth, death, ancestry, diagnosed health conditions, miscarriages/stillbirths, treatment history, and consanguineous relationships (a polite way of saying inbreeding). In combination with DNA data, this is very powerful information.
Who do you trust with your life?
The final concept is that if a person obtains a diagnosis of a certain disease, especially if it is some uncurable disease that could impact your cognitive abilities down the line, this could be the time to start considering who will be your future power of attorney and personal directive to make all of the decisions on your behalf when your own capacity to make competent choices is gone. This is not a pleasant topic, but if you are willing to brave the reality that DNA sequencing could provide you with, or if you obtain some genetic predispositions, such as Alzheimer’s, Parkinson’s or Huntington’s disease, to name a few, you might take these options very seriously into consideration. At that point, it is very important to know: who should be taking care of your health and who should be managing your estate for you? And that certainly is never an easy decision to make!
By the way, being able to assign your personal directive and power of attorney by learning about those uncurable diseases is not the only benefit of obtaining this type of information. While we understand that this is deeply personal decision, as this type of information is not for everyone to handle, early access to such information allows the person to start looking at clinical trials that might be taking place with regards to finding novel cures. The examples mentioned above typically do not manifest symptoms until quite late in life, so without having some prior genetic predisposition knowledge, a person would never be looking at clinical trials information for such conditions. But having this information at hand, one could participate in a trial and potentially gain access to important cures many years before such treatment would become publicly available.
So while it might be very scary to face such a truth, there can potentially be a reward to having access to such early knowledge. However, if you order clinical genome DNA screening for health conditions, you would also have an option to receive only the information for conditions that have treatments or interventions available, or to receive all of the information including currently incurable conditions. That decision will belong to you when you decide to order your test, but we wanted to point it out while discussing the legal ramifications of collecting such evidence. If you need access to quality clinical DNA testing, whether full genome (what we are a proponent of), or otherwise, Merogenomics is always here to help.
This article has been produced by Merogenomics Inc. and edited by Kerri Bryant. Reproduction and reuse of any portion of this content requires Merogenomics Inc. permission and source acknowledgment. It is your responsibility to obtain additional permissions from the third party owners that might be cited by Merogenomics Inc. Merogenomics Inc. disclaims any responsibility for any use you make of content owned by third parties without their permission.
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