I was a biology teacher in the time of the Human Genome Project. This week, with the coming release of the newest movie about Oppenheimer and the development of the atomic bomb, I’ve been thinking about the DNA and genes again (I know, it is a biogeek thing…), because one of the candidates running for the Republican nomination in the US wants to cut the Department of Energy if elected.
Kind of a loose chain of threads, you’re probably thinking. Am I right? Well… the Department of Energy is the agency that is responsible for the regulation of the nuclear energy industry in the US. There’s a lot of waste coming out of those nuclear reactors, and there was some concern about how much mutational damage was being done to DNA through exposure to radiation. Well, to figure that out, you need to know what undamaged DNA looks like. The initial drive to figure out what the human genome looks like came from that agency and once the results came in early this century the world completely changed. Like a big change. Like an atomic bomb level change. Like, there are now sites that have huge depositories of biotechnical data and tools to aid in research.
In the classroom we biology teachers began to teach about the Human Genome Project and also did a week-long unit around the ethical problems associated with this new knowledge (bioethics, if you will). The kids grappled with dilemmas like… if you had the gene for a fatal, untreatable illness, would you want to know? If you were a child at risk for this gene, would it be okay for your parents to have you tested for it before you are 18? If your unborn child tested positive for this condition, what would you do? Would it be okay for human organs to be grown for transplantation? Who should get the transplant… a single father of 4, or a 16-year-old student in your high school? Should your employer allow you to continue in your airline pilot job if a genetic test shows you are high risk for a sudden cardiac event. Should genetic test results be private? Whew. Lots to grapple with in this unit.
So, shit kind of got real this week. One of the members of an online support group for pulmonary arterial hypertension (a progressive and fatal heart/lung condition that I have thanks to systemic sclerosis) has just been identified with a gene (bpmr2) that causes the condition; her PAH is caused by this gene and can be inherited; she has a different type from me, but it is still PAH. Oh, boy. This is not good at all. The life expectancy right now is up to about 7 years, but you only need one copy of the gene to be at risk for PAH… there is a 50% chance for each of her children that they inherited the gene. Only 20% of people with the gene will develop PAH, but that is still a big risk.
Should she tell her two children? she is asking in the forum. They are in their late 20s. If she does, and they get tested, should they have their own children if they have the gene? Her heart is broken, literally.
Life expectancy has greatly improved over the last few years with new medications being generated in the modern climate of expanding cellular and molecular biological information. Untreated PAH (and PH kind of gets lumped together with it according to my pulmonologist…) has a life expectancy of about 2.8 years… not good.
Which brings me to the next shitty bioethical item that occurred this week. One of the members of another support group caught Covid and had to go off her drugs while fighting the virus. She has been slow to recover, and still feels pretty bad, but she took a pregnancy test and restarted her medications again a few weeks ago, only to discover this week that she is actually 12 weeks pregnant. Why did she have to take a pregnancy test before restarting her drugs? Because some of the drugs used to treat PAH can cause extreme damage to a human fetus. The enrollment process is very strict, and every effort is made to keep patients from this situation.
I am in grief for this woman. The doctors think that the baby has been spared the worst of the drug toxicity, but now she is working her way through whether to abort or not, to restart her drugs, or not. To risk death to save the baby, or to abort and restart treatment. If the baby is born in good health, will she live long enough to see it enter kindergarten. If the baby is born with health problems, her medical burden is increased. She is young. This is a horrible mess, and she is already too far along to get an abortion in many states in the US. I don’t know if she has other children, or what her support structure is…
This week I heard that some states are demanding private health records to identify any out-of-state abortions or transgender care that has happened in another state. I hope that this woman lives in another country…
Then I heard that a popular hamburger joint near my home is now going to fire employees who wear a mask. Say, WHAT?! Let me tell you, any person who has a serious lung/heart condition like mine wants to wear a mask, and they are so grateful if the person at the service window is also wearing a mask. Sometimes people offer to put on a mask when they see that I am wearing one. Now that person can be fired for putting on a mask… remember the young PAH patient whose nightmare began with catching Covid? Truthfully, any random virus can cause serious damage to patients with PAH, especially if they are also immunosuppressed.
So, there are a lot of bioethical dilemmas here, and the unintended consequences of people who want to make sweeping decisions without understanding all the interlocking systems involved and the potential ramifications are staggering. NO, you can’t just disband the Department of Energy, and sweeping, inflexible decisions about reproductive issues (that seem to be smugly self-righteous to me) can be disastrous. It is easy to order up genetic tests, but what happens once you have the information can be life-altering.
And don’t get me started on this animosity towards mask wearing…
I can’t help but think that no one should attempt to enact legislation without suffering through experiencing something like the bioethics unit that was taught at the high school where I used to work. I keep wondering, do these legislators actually understand nuclear power and weapons? Have they heard of the Human Genome Project? About gene testing? About rare diseases? They absolutely need to go see the Oppenheimer movie, maybe, and then write me a report about the Human Genome Project. I’m pretty sure that they would struggle with epigenetics, but it would do them good if they looked into it. They can get extra credit for a summary of pulmonary arterial hypertension. I would like to give them a book list of summer reading to get through on their breaks, because only the well-informed and educated should attempt to make decisions about these issues in the seven levels of bioethical hell that is the life of patients like me.
Because this week was a really hard one; for too many people this shit is real.
PS: Have you seen the show House? I kind of think that he could use a little bioethics sensitivity training, too.
Yarn, Books & Roses 
Another deeply-thought-through post from a woman who works her socks off to keep up-to-date with all the input available regarding her various medical problems. The sites you visit, Marilyn !!
I have nothing to contribute, of course; but I’m always fascinated by reading about your reading.
As for De Santis, there’s only scornful laughing. Like all the GOP ‘leading lights’ he’s a total waste of time to the point of being dangerous.
Your photos are very special – especially that of Hannah. She’s a knockout !! 😀
I’m a BioGeek; I’m lucky now that I had a lot of exposure to this stuff through my work. I have been so alarmed by the stuff coming out of the mouths (and legislatures) of the right. They seem to be taking action based on absolute beliefs that are rooted in the last century, and the political theater that is being employed instead of actual factual knowledge is heartbreaking. DeSantis is dangerous; he says these things like chum to draw the voters. What is more dangerous is how many people are drawn to the bait and how enthusiastically they embrace the message.
There’s no accounting for the widening gap between the two groups; and in my outlander view there’s no defending the growing madness on the right.
Hannah: I am gorgeous, aren’t I?!
You surely are, you beautiful creature !! 😀
Thanks for sharing the interesting information. Data breaches in genetic testing companies have already occurred, and 23 and Me shared some information with GSK/GlaxoSmithKline; however, they were acquitted of anywrongdoing by the FTC because they were shown to follow best practices regarding data security. Really? It seems like it’s only a question of time before insurance company underwriters get into the act and make use of the information to govern health insurance costs. That, it seems, will be only the tip of the iceberg.
I donated DNA to 23 and Me for their systemic sclerosis research, and I do seem to remember that I signed a waiver to allow my data to be used in the development of possible treatments. I do think that if insurance underwriters get ahold of genetic data there will be huge problems. Have there been some laws to protect against this? (Not that guarantees that they won’t get the data anyway since they seem to own some legislators…). I was shocked that Tennessee was able to obtain private medical records.
No-one who knits so well could be accused of a loose chain of threads – a clearly informative and sensitive post from one who truly knows. We all have decision makers who neither know the issues nor think them through
Speaking of loose chains of threads, there are too many political froggers, bent on undoing but not reknitting.
It is really easy to frog, but much more difficult to reknit a balanced fabric. These people are not interested in doing that work.
This is true about the decision makers. What alarms me is their lack of willingness to educate themselves or to consider the consequences of sweeping laws.
I suspect arrogance
Heavy, thought-provoking stuff today. I hope the pregnant woman lives in or can get to Colorado, where our law now prohibits sharing any of her info with the prying eyes of any other state. (Don’t get me started on the ignorant, self-righteous laws in other states.)
I can really appreciate the concern about sharing genetic test results with the kids. I think if I knew something like that, I’d tell them and let them decide for themselves if they wanted to be tested for it. Personally, I’ve never had any desire to know if something I can’t change is coming down the pike.
The nuke thing. Sheesh. What a cesspool that can be. I hope the movie is accurate enough to open the eyes of people not yet aware. Particularly the younger generations that I suspect may be utterly clueless.
“House.” Great show! Your sweater and that rose, gorgeous.
I’ve had several types of genetic testing done, and at the time it was necessary to determine my treatment plan. I never, ever thought about what the ramifications would be if I tested positive in terms of my children and grandchild, but I now think I should have asked better questions. I’m in the “I want to know” camp as it informs my decisions going forward.
Certainly I’d have done it as part of establishing a treatment plan. Anything less than the fullest possible disclosure for one’s doctors is only cheating oneself.
Goodness me I have so many comments I want to write and my answers to some of those ethical questions you pose but I’ve already forgotten half the things it occurred to me to say. I personally would want to know if my parents had tested and I would test myself and know the situation. I have a couple of weeks ago sent off my 23andme test as I do want to know if I’ve inherited the late onset Alzheimer’s gene (my maternal grandmother had it) but it’s a few weeks before I’ll get answers. We are blessed here that healthcare is free and even if the information was leaked it wouldn’t affect my ability to get free healthcare. My paternal grandfather died of non alcoholic sclerosis of the liver and I have non alcoholic steatohepatitis could be totally unrelated. He apparently was never the same after drinking some unpasteurised milk and I have found since I’ve switched to soya milk (and limit dairy to mozzarella on pizza) the last few years my liver ALTs are heading towards normal and improving each year and my last US there were patches of fat rather than a solid full fatty liver. Last month I did a food intolerance blood test and my top item was cows milk! Could have nothing to do with genetics at all but it’s interesting and I have signed the bit that says my results can be used in other testing or studies. All those temper tantrums I threw when I was a kid being forced to drink a glass of milk a day…well now it makes sense!
I also have tons of comments in response.
🙂
I want to know my test results whenever possible. How great that you are able to see improvement with diet adjustments! I’m glad that you were able to figure it out and your ALT results are better. That’s one of the tests that I get every three months because my drugs are toxic to the liver; so far my liver has been rolling with the punches and keeping up. Yay, liver!
One of the things with pulmonary arterial hypertension is that it progresses pretty rapidly in doing damage to the lungs and heart and it is important to catch it as soon as possible. I got testing every year since my scleroderma makes me high risk, and the new drugs really are making a difference in treatment options. If you had the gene, it would be good to know so that you could watch for symptoms and get routine testing.
I saw an article this morning that says a research team in China has identified 7 genes that are major players in scleroderma, and this info drives new treatment pathways. Wow! So amazing. We are so comfortable with gene-based research and genetic testing that we forget that this is pretty new technology.
Highland Heffalump, your health care for now is free and not tied to genetic testing outcomes; however, what if the reason for Nigel Farage’s bank account being closed without his consent were extended to the medical field? One’s political choices might put medical treatment in jeopardy in the same way. Too scary to contemplate, but too potentially realistic to ignore. As an aside, I’m with you on the childhood temper tantrums regarding drinking milk. Being lactose intolerant is the pits, but it can be worked around when you’re aware of it, like 100 years later!
Sorry, Highland Heffalump. What I wrote doesn’t make sense. I meant to say one’s genetic testing outcome, like Farage’s political choices, might affect one’s access to medical treatment in the same way that Farage’s “debanking” occurred because of his politics. It’s late, and I’m going to bed because my brain is mush.
I’m sorry, HH, I goofed when I replied to your post after Midnight Knitter’s response. My comment is located below MK’s response. It’s late, and my neurotransmitters are asleep, while my fingers are still dancing on the keyboard. 🙂
As always, a very interesting and thought provoking look at some difficult topics! I am so sorry for your young friend restarting her drugs. No easy answers there, or for most of these issues at all!
I don’t know how these two women ended up, but my heart is still hurting for them.
America is terrifying enough from the outside right now, it must be so difficult to live through all these awful changes first-hand. Although we have our own set of problems with our people in power.
They really should have to at least educate themselves on a topic before making up ridiculous rules about them.
I couldn’t agree more!