Here's an interesting discussion between cardiologists on Twitter about whether Hamlin would need an ICD if he's able to (and wants to) return to play:
Jan 13, 2023·edited Jan 13, 2023Liked by David Epstein
This is really interesting. After seeing all of the sudden cardiac arrests on the pitches in the UK, we got to thinking about the grassroots footballers, and what happens to them. 36% of adults in the UK don't know how to perform CPR, so we created a product called the Extra Time Badge: https://www.extratimebadge.com/
In essence, it's a badge that's meant to be ironed on to a uniform / training top in the right place to perform CPR. If that athlete then ever suffers from cardiac arrest, someone close to them can put their hands on the badge and follow the instructions there to perform CPR.
Check it out. It's obviously not going to solve the stuff you wrote above, but it's a first small step.
I'm really sorry to hear about your loss and personal connection to this as well <3
Yes! I think we’ve sent out about 500 (or more?) badges to grassroots clubs across the UK. Hearts and Hibs wore them for their derby last year. Hoping to get more this year!
That badge is awesome, Cori. On a side note, I was curious, what do you think are the reason(s) behind the sudden cardiac arrests we're seeing in football players in the UK?
David - thank you for writing this. That fact about the number of doctors in Italy :0 -- blew my mind. I grew up playing lacrosse and heard a story about a goalie taking a shot to the chest and dying on the field, so this was really interesting to read. As always, great stuff.
Tully, thanks so much for reading, and or the kind words. You just reminded me of a well known case of commotio cordis in a Cornell lacrosse player. Not sure if it's the same one, but that has definitely happened. I'm not sure if I'm more amazed that it can happen at all, or that it doesn't happen more often.
If it was myocarditis, that will become clear from diagnostic tests, so I don't see any reason to jump the gun on it. That said, it's clear there have been cases of myocarditis caused by mRNA vaccines. At the same time, the chance of a sudden death is incredibly, incredibly small. In the Japanese study, for example, of 100 million people, there were — at most — 38 myocarditis deaths.(https://www.medrxiv.org/content/10.1101/2022.10.13.22281036v1) In the US, out of 192 million people studied, there were 1,626 myocarditis cases, and it seems that none (or perhaps one) of them clearly resulted in a death. (https://jamanetwork.com/journals/jama/fullarticle/2788346). So I'd call that the flea in the room rather than elephant. It's real, and there some deaths, but the absolute least likely cause, even less likely than commotio cordis. Are you concerned about the myocarditis risk from infection with Covid-19 as well? In any case, I think this is an important discussion, and appreciate your comment.
David: You're a brilliant person. I own a copy of Range. We have a new category now known as "subclinical myocarditis."
You are suggesting the risk of myocarditis from Covid-19 infection is comparable to the risk of myocarditis or pericarditis from mRNA injection. I hope you keep an open mind on that question. Perhaps consider reading your fellow Substacker eugyppius, who is another brilliant generalist.
Jim, I appreciate the kind words, and I'm open to different ideas. I don't have a strong opinion on this matter, and I don't know the myocarditis risk associated with Covid-19 infection. I'm not suggesting they're comparable (given that I don't know), but I do believe one would have to weigh the risks on each side. (Overall, my first guess would be that the cost/benefit assessment specifically with respect to myocarditis is highly dependent on age.) In any case, thanks for this article. I started reading it, and, thus far, I must say I'm confused by the use of the first citation. The study that purportedly shows that myocarditis is not a symptom of Covid infection, does not appear to me (on admittedly quick read) to say that. My read of it is that it says there are many heart pathologies associated with Covid infection, and myocarditis is a low-prevalence one. Have you taken a look at that paper? https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8941843/
Thank you for the quick reply. Like you, I keep an open mind, which is why I carefully worded my comment, and I applaud your openness. The authors' conclusion of the meta-analysis is that prevalence of myocarditis in patients with Covid-19 is low.
Great article. My story: I ran some 90 miles per week until my stroke and heart attack. I received an ICD 4 months later, and gradually started running again. I dropped to around 50-60 miles per week for 8 years on an EF of 30. No shocks or misfiring. Then it went downhill and EF reduced to 18, kept running. Blacked out once HR hit 245, device shocked me and I carried on just fine. Carried on running regimen through further EF degradation and an ablation surgery after multiple VT episodes. Degradation continued until ended in a VT storm, ER and the Shocking failed, surgery and ECMO. Heart transplant followed a couple of days later. 4 months later resuming my running. Slowly increasing frequency and distance. Now 8 months post transplant and really enjoying my daily 6 miles of running. Looking to build up again.
Thanks for this article and the offshoot articles!
WOW. Steve, thank you so much for sharing these details. 50-60 miles a week on EF of 30?? I don't know what the records for that sort of thing are, but you're definitely an elite! ...And a true runner after my own heart, always looking to build up again;) I'm sorry that you've had to deal with this, but glad you're back at it. I'd love to see you share your progress in the comments as you build up.
Thank you so much David! I’d be happy to. Contemplating blogging my days . Had some interesting questions and discussions with my team. For example, what are the guidelines for max HR now! My donor was significantly younger than myself. So far, 183 has been my peak! Exercise and post heart transplant come up often.
Oh man, that is fascinating. Keeping some sort of record of your days might be really interesting for you, and a lot of other runners. And please do update here at some point.
Yeah, I log every run on my Garmin and I am around 875 miles of running with a new heart.
It is interesting to see how the pace, distance, HR and VO2 Max has evolved over the last few months.
It is also different now since having a heart transplant they have to cut the vagas nerve. Which has implications for autonomic subsystems sympathetic and parasympathetic. Any exercise I have to pre-empt with a short warm up routine (like 30 seconds of jumping jacks for example).
I am really thinking of blogging my daily thoughts and experiences for my own record at least.
I will definitely let you know how things go.
Thanks so much for the interest. I love the science behind a lot of this and I have come to appreciate much more on the human biology now.
I appreciate your dedication to bringing this complex though devastating problem to light. I have done roughly a thousand pre-sport physicals from middle school through college, over the years as a physician assistant - though I'm now retired. The history and physical portions of the exam are done with special attention to abnormalities that could be potentially lethal or catastrophic under the right combinations of circumstances. So many times the students or their parents belittled the importance of concerning symptoms such as chest pain or dizziness with sports. Many fought tooth and nail to evaluate newly discovered heart murmurs. As I say - it was and is a very complex problem. I think I turned up only a handful of students with either echo changes consistent with hypertrophic cardiomyopathy or EKG findings of prolonged QT.
Mark, thanks so much for the kinds words, and I really appreciate this context and detail. I think the only thing I have to say is: thank you for your care and the work you did.
You might enjoy reading about the biological effects of non-native Electromagnetic Radiation, especially Wireless Radiation. This is a confounding variable for our current societal challenges, including heart palpitations and sudden collapse. I share more on my Substack page: https://reclaimedwellness.substack.com/
This was very well written as usual, and the analogy of the interventricular septum stacked like scattered bricks really helps. I’m sorry that your high school friend passed away - that would have left an indelible scar for me, too. My best friends were my X-C and distance medley teammates. We ran so hard I often worried about my own heart. And to lose another friend (Grant Wahl) recently must bring up old sadness and new.
I do sometimes check ECGs for high school athletes at routine physicals based on guidelines or family history or family request. Have picked up a few long QT and WPW possibilities which are then referred to pediatric cardiologists, a luxury perhaps here in a metro area.
I have not followed the Hamlin case very closely, but I would guess from the video it was vfib/impact induced (commotio). I know many others have dangerous jobs, but watching the hits and physical damage that happens in football, leading to chronic pain, CTE, and all the rest, has forced me to look away from a sport I used to love as a kid.
I can’t watch it anymore.
Thanks again for this post and the previous about Grant. Helps motivate me personally and professionally to be careful and proactive.
Hey Ryan, thanks so much for this note, and I'm honored to have someone doing the work you're doing here, and leaving thoughtful comments!
I used to love football too, and still find it really compelling on the rare occasions I do see it, but I almost never do anymore, since I don't have a TV or an TV subscription...so the choice is made easy for me;) Really, though, it is interesting to see the ethical discussion provoked by the Hamlin case, given the inherent violence in the sport even when everything is going as planned. ...I wonder why boxing doesn't attract as much attention, given that it's indefensible from a medical standpoint. Perhaps it's just not as popular? Or spectators just doesn't care about the competitors the same way? Would be curious what you think...
In any case, I also just want to thank you for an eloquent comment. These are two beautiful lines I'll remember: "We ran so hard I often worried about my own heart. And to lose another friend (Grant Wahl) recently must bring up old sadness and new."
I love that you have no TV either! We are semi-Luddites, too, and when Comcast gobbled up the broadcast rights to Philly teams (Phillies, Flyers, etc) it marked my exit from obsessively watching pro sports. It's just too big business for me, and I naively thought as a kid that a team calling themselves the "Philadelphia Phillies" and playing at "Veterans Stadium," or even a team honoring the "Philadelphia (17)76ers" would have some inherent civic obligation to at least broadcast on the open airwaves for the people of the poorest big city in America to watch...
And you are so right about football being the centerpiece in a discussion about violence in sports, and the indefensibility from a medical standpoint. I can't watch boxing anymore either although I love it, and never could stomach MMA even in my testosterone fueled younger days. You would know much better than I, but perhaps those sports are more transparently pugilistic, ones we usually don't let our kids play, and ones that individuals can be singled out for the consequences of their risky choices, instead of a whole team being complicit?
> Nobody ever really suggested genetically screening every athlete anyway.
Indeed. With WGS at $100-500, the rational suggestion is to genetically screen *everyone*, pre-natally, for all the rare diseases, and not merely the heel-prick subset.
Yes. Since everyone is going to get sequenced eventually, it's too important for things like pharmacogenomics or adult disease risk prediction or research to not get sequenced, the only question is 'when'. The obvious answer is that since such information is useful throughout one's life, sooner = better. As sequencing gets more sensitive, and you also have on file parental genomes (as a matter of course from *earlier* sequence-everyone-ing) which makes imputation and reconstruction more efficient, you can do so routinely with circulating cells and whatnot. And you should do so, rather than waiting for some neonatal process to return results days or weeks after birth, so you can diagnose well in advance and be ready to treat all rare Mendelian disorders, especially the metabolic ones, the instant the baby is disconnected from the mother's metabolism. Many are treatable, and the faster treatment is begun, the less damage there is. (This would also help bring closure to some cases of miscarriage, where there was probably a fatal de novo, and I'm sure other uses we are too unambitious to think of now.)
Seems like a reasonable idea to me. I worry that we'd develop some of the same problems that other mass screening efforts have engendered, but as far as the rare Mendelian disorders, makes a ton of sense. And could be great for research too. In terms of the known screening issues, I think the devils would be in the details of implementation and communication — same as it is now, I suppose. Thanks for this comment!
- reliable, faithful long-term information storage,
- interpretations of the results, including the classic genetics conundrum concerning secret genealogical histories
- what to do with the sequence variants that are not (yet?) actionable or do not correspond to protein-coding regions, both of which are the vast majority
- and a massive one concerning data security and privacy over a lifetime,
but I agree in principle on the technical approach.
David, as a rare disease researcher myself, I appreciated this very much: "I began to learn how really complicated genetic research is, and why 20 years of promises about genetically personalized medicine have failed to materialize. Even the “simple” diseases aren’t simple." You get it.
As soon as I heard about and saw the Hamlin news, I thought about both Hank Gathers and your story (Kevin, ETHS and the Sports Gene). Obviously a bit different, but figured you’d be sharing something interesting on this subject.
Yo Henry! Nice to hear from you. ...I initially talked myself out of writing anything since I haven't actively kept up with the issue. But then I figured: what is this newsletter for if not sharing in a sort of informal voice, and providing some links, and then updating if I learn more! ...In any case, cool to see you here, and would love to catch up sometime
Great article, David. I really appreciate how clearly and sensibly you explain your recommendations. I also really like how open you are about your career decisions. One question on the personal genetics-based medicine front. From what I took from what you wrote, it sounds like it is the complexity of the genome (and number of genes involved in each trait) is what is holding the field back. Do you think it's a data processing problem or something more fundamental? By that I mean do you think that an increase in computing power/analysis will be able to overcome that? Or do you think the problem is bigger than that? The paper you linked to didn't seem very optimistic. Thanks!
(By the way, do you know more about the history of Italy having had nearly open admissions to med school? That sounds fascinating. Do the downsides (slightly lower average quality of doctor?) outweigh the huge upside of just simply having more doctors? I know people like Ezra Klein, Derek Thompson, and more have advocated for an abundance agenda, and this sounds similar. Also, I can't help but ask/quip if it was with a Fermi approximation that you questioned the 8 doctors per thousand people statistic ;)
Hey Matt, as far as personal genetics, I think it's a mix. I should say, I think there have been some incredible achievements related to certain rare diseases, and even the ability to screen for the more common HCM mutations is fantastic when it's clear a family has it. As far as more common diseases, though, I think the issue is multifaceted. First, yes, I think there's a data processing issue. A few years ago I was at NIH, and they showed me the fancy new "high throughput" genome sequencing machines, and then someone explained to me that now they would be able to pile up even more data much faster than they could analyze it! The cinch in the hose was biostatisticians. So I do think there's a data issue. That said, I think it's clear now that in many cases the effects of each of the contributing genes (and non-gene parts of the genome, which used to be called "junk DNA," but no longer...) are so tiny that they're essentially impossible to detect. Even very simple to measure traits, like height, even with studies of of thousands of people, fail to find many of the genetic inputs. (I recall, for example, a study with 4,000 subjects that identified 300,000 spots on the genome that seemed to be influencing height, and that still left the majority of inherited height difference between people unidentified.) So that's another issue, and on top of it you have the fact that there are many different pathways to get the same physiological outcome, so that makes the research even more complex. And, finally, I think the most important factors contributing to the most common illnesses these days — metabolic syndrome, asthma, allergies, type II diabetes, common cardiovascular diseases, etc — are more environmentally than genetically influenced. And to make matters more confusing, sometimes genes start to matter only when the environment changes. Here's the great Alex Hutchinson writing about a study showing that the gene most well-known as associated with obesity only started to matter in the mid-20th century: https://www.theglobeandmail.com/amp/life/health-and-fitness/fitness/what-our-genes-tell-us-about-our-health/article22724898/
...There are some more layers of complication, but I'll leave it there for now. This isn't to say I don't think we'll make medical progress, but I think more often it'll come from understanding the physiology better directly, as opposed to the genetics, if that makes sense. Sometimes, I think asking about genetic testing is akin to testing someone for height genes and getting a partial picture when you could instead use a tape measure.
I used to know more about the history in Italy, and couldn't find the book that detailed it as I was dashing off this post. But I'll look for it in my boxes and see if I can find it. I first learned about this from attending conferences where cardiologists from Europe and the US would debate about whether what happens in Italy could be done in other countries. As far as downsides, I don't really know. On the one hand, for someone to spend a career reading ECGs, I doubt they necessarily need to go through med school for that, so if I were emperor and wanted to mimic that program, I'd probably make an ECG technician program or something. (I don't know if Ezra and Derek talk about this, but it seems to me that gatekeeping in the form of intentionally onerous licensing requirements sometimes decreases supply of professionals unneccessarily.) And ultimately I have no idea how to weigh the Italian system. What would those people have been doing otherwise? I have no idea, but given Italy's top-heavy population, maybe it'll be especially useful. I don't have a good answer here! And I do think some of it depends on what we'd use more doctors for. If the incentive system is such that we're heavy with plastic surgeons (which may be the case), we may not need much more of that. And there's no evidence I know of to suggest that the annual checkup for asymptomatic patients is worthwhile. So I think a lot depends on the structure of the system, not only the supply
...as far as Fermi estimation, of course;) When I saw 8 and spent some time thinking about it, it didn't feel impossible, just very high, so I checked for other sources, and saw some differences. Our World In Data, which I love, has 8 using the World Bank data, so maybe I'll reach out to them and see what they think.
Thanks for such a thorough reply! The picture you paint about genetic research is so much more complicated than I'd assumed. With that being the case, I hope medicine heeds the advice of the article you linked to. And thanks for the height analogy. It really helps crystalize the point you're making. And at this point you've mentioned Alex Hutchinson enough that it's probably time I read Endure.
Also, point taken with regards to Italy. More doctors (or, at the very least, people with medical training) seems to be a good thing, but like you said it's more nuanced than that. I'm from LA, so I certainly hear your point about not needing more plastic surgeons. Glad to see my hunch was right about the Fermi estimation!
As far as Endure, I'll just say, that was basically a book I wanted to write, but I'm glad Alex did because I'm not sure I would've done as well. ...And I should say, for some rare conditions that follow clear inheritance patterns, genetic testing has been a miracle. Even with HCM, for families who do have one of the known mutations, it definitely saves lives because you can instantly check the entire family tree.
I had never heard of ICDs, especially not in athletes, and the info was both fascinating and uplifting. To think their effectiveness, as studied, is so high, and yet we do not hear more about them. Condolences on the tragic loss of your friend as well as this vital information this lead you to investigate that might just help someone save a life.
Really appreciate your article, David! I had a pacemaker (not ICD) implanted almost four years ago and people assumed that I would give up my 3x a week weightlifting regimen and playing contact sports (I am a field hockey goalie). I have definitely not! Just saw my cardiologist yesterday and they said what many people do not consider is that the injury to Damar Hamlin was a perfect storm of circumstances. Yes, football is dangerous, but these types of cardiac arrest events in sports are relatively rare.
Here's an interesting discussion between cardiologists on Twitter about whether Hamlin would need an ICD if he's able to (and wants to) return to play:
https://twitter.com/DavidLBrownMD/status/1611134709815447552
This is really interesting. After seeing all of the sudden cardiac arrests on the pitches in the UK, we got to thinking about the grassroots footballers, and what happens to them. 36% of adults in the UK don't know how to perform CPR, so we created a product called the Extra Time Badge: https://www.extratimebadge.com/
In essence, it's a badge that's meant to be ironed on to a uniform / training top in the right place to perform CPR. If that athlete then ever suffers from cardiac arrest, someone close to them can put their hands on the badge and follow the instructions there to perform CPR.
Check it out. It's obviously not going to solve the stuff you wrote above, but it's a first small step.
I'm really sorry to hear about your loss and personal connection to this as well <3
Cori, that is such a cool idea! I love this idea...have you gotten some uptake from clubs thus far?
Yes! I think we’ve sent out about 500 (or more?) badges to grassroots clubs across the UK. Hearts and Hibs wore them for their derby last year. Hoping to get more this year!
That badge is awesome, Cori. On a side note, I was curious, what do you think are the reason(s) behind the sudden cardiac arrests we're seeing in football players in the UK?
David - thank you for writing this. That fact about the number of doctors in Italy :0 -- blew my mind. I grew up playing lacrosse and heard a story about a goalie taking a shot to the chest and dying on the field, so this was really interesting to read. As always, great stuff.
Tully, thanks so much for reading, and or the kind words. You just reminded me of a well known case of commotio cordis in a Cornell lacrosse player. Not sure if it's the same one, but that has definitely happened. I'm not sure if I'm more amazed that it can happen at all, or that it doesn't happen more often.
Nailed it - That's the one! Agree - 100%
Excellent article. Thanks David and sorry for the loss of your friend years ago.
Appreciate you reading, Michael, and thanks for the kind words.
Don't mention vaccine-induced myocarditis! The elephant in the room. Hamlin would have been screened for hypertrophic cardiomyopathy.
If it was myocarditis, that will become clear from diagnostic tests, so I don't see any reason to jump the gun on it. That said, it's clear there have been cases of myocarditis caused by mRNA vaccines. At the same time, the chance of a sudden death is incredibly, incredibly small. In the Japanese study, for example, of 100 million people, there were — at most — 38 myocarditis deaths.(https://www.medrxiv.org/content/10.1101/2022.10.13.22281036v1) In the US, out of 192 million people studied, there were 1,626 myocarditis cases, and it seems that none (or perhaps one) of them clearly resulted in a death. (https://jamanetwork.com/journals/jama/fullarticle/2788346). So I'd call that the flea in the room rather than elephant. It's real, and there some deaths, but the absolute least likely cause, even less likely than commotio cordis. Are you concerned about the myocarditis risk from infection with Covid-19 as well? In any case, I think this is an important discussion, and appreciate your comment.
David: You're a brilliant person. I own a copy of Range. We have a new category now known as "subclinical myocarditis."
You are suggesting the risk of myocarditis from Covid-19 infection is comparable to the risk of myocarditis or pericarditis from mRNA injection. I hope you keep an open mind on that question. Perhaps consider reading your fellow Substacker eugyppius, who is another brilliant generalist.
https://www.eugyppius.com/p/sars-2-and-paxlovid-resistance-the?utm_source=%2Fsearch%2Fmyocarditis&utm_medium=reader2
Jim, I appreciate the kind words, and I'm open to different ideas. I don't have a strong opinion on this matter, and I don't know the myocarditis risk associated with Covid-19 infection. I'm not suggesting they're comparable (given that I don't know), but I do believe one would have to weigh the risks on each side. (Overall, my first guess would be that the cost/benefit assessment specifically with respect to myocarditis is highly dependent on age.) In any case, thanks for this article. I started reading it, and, thus far, I must say I'm confused by the use of the first citation. The study that purportedly shows that myocarditis is not a symptom of Covid infection, does not appear to me (on admittedly quick read) to say that. My read of it is that it says there are many heart pathologies associated with Covid infection, and myocarditis is a low-prevalence one. Have you taken a look at that paper? https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8941843/
Thank you for the quick reply. Like you, I keep an open mind, which is why I carefully worded my comment, and I applaud your openness. The authors' conclusion of the meta-analysis is that prevalence of myocarditis in patients with Covid-19 is low.
Great article. My story: I ran some 90 miles per week until my stroke and heart attack. I received an ICD 4 months later, and gradually started running again. I dropped to around 50-60 miles per week for 8 years on an EF of 30. No shocks or misfiring. Then it went downhill and EF reduced to 18, kept running. Blacked out once HR hit 245, device shocked me and I carried on just fine. Carried on running regimen through further EF degradation and an ablation surgery after multiple VT episodes. Degradation continued until ended in a VT storm, ER and the Shocking failed, surgery and ECMO. Heart transplant followed a couple of days later. 4 months later resuming my running. Slowly increasing frequency and distance. Now 8 months post transplant and really enjoying my daily 6 miles of running. Looking to build up again.
Thanks for this article and the offshoot articles!
Steve
WOW. Steve, thank you so much for sharing these details. 50-60 miles a week on EF of 30?? I don't know what the records for that sort of thing are, but you're definitely an elite! ...And a true runner after my own heart, always looking to build up again;) I'm sorry that you've had to deal with this, but glad you're back at it. I'd love to see you share your progress in the comments as you build up.
Thank you so much David! I’d be happy to. Contemplating blogging my days . Had some interesting questions and discussions with my team. For example, what are the guidelines for max HR now! My donor was significantly younger than myself. So far, 183 has been my peak! Exercise and post heart transplant come up often.
Happy running!
Steve
Oh man, that is fascinating. Keeping some sort of record of your days might be really interesting for you, and a lot of other runners. And please do update here at some point.
Hi David,
Yeah, I log every run on my Garmin and I am around 875 miles of running with a new heart.
It is interesting to see how the pace, distance, HR and VO2 Max has evolved over the last few months.
It is also different now since having a heart transplant they have to cut the vagas nerve. Which has implications for autonomic subsystems sympathetic and parasympathetic. Any exercise I have to pre-empt with a short warm up routine (like 30 seconds of jumping jacks for example).
I am really thinking of blogging my daily thoughts and experiences for my own record at least.
I will definitely let you know how things go.
Thanks so much for the interest. I love the science behind a lot of this and I have come to appreciate much more on the human biology now.
WOW!
Anthony Van Loo collapse on the field, and then a few seconds later he jerks when the ICD shocks him, and then he sits up. Amazing
I appreciate your dedication to bringing this complex though devastating problem to light. I have done roughly a thousand pre-sport physicals from middle school through college, over the years as a physician assistant - though I'm now retired. The history and physical portions of the exam are done with special attention to abnormalities that could be potentially lethal or catastrophic under the right combinations of circumstances. So many times the students or their parents belittled the importance of concerning symptoms such as chest pain or dizziness with sports. Many fought tooth and nail to evaluate newly discovered heart murmurs. As I say - it was and is a very complex problem. I think I turned up only a handful of students with either echo changes consistent with hypertrophic cardiomyopathy or EKG findings of prolonged QT.
Mark, thanks so much for the kinds words, and I really appreciate this context and detail. I think the only thing I have to say is: thank you for your care and the work you did.
And "Back At You" as they say
You might enjoy reading about the biological effects of non-native Electromagnetic Radiation, especially Wireless Radiation. This is a confounding variable for our current societal challenges, including heart palpitations and sudden collapse. I share more on my Substack page: https://reclaimedwellness.substack.com/
Arthur Firstenberg, independent scientist and author of The Invisible Rainbow, wrote a great article about the sudden death of birds on the Dutch island of Texel. This is one of many similar instances over the past few years: https://cellphonetaskforce.org/wp-content/uploads/2022/07/Birds-on-Texel-Island.pdf
It is worth a read when you have the time. May our curiosity for confounding variables lead us to a better outcome. 💚
This was very well written as usual, and the analogy of the interventricular septum stacked like scattered bricks really helps. I’m sorry that your high school friend passed away - that would have left an indelible scar for me, too. My best friends were my X-C and distance medley teammates. We ran so hard I often worried about my own heart. And to lose another friend (Grant Wahl) recently must bring up old sadness and new.
I do sometimes check ECGs for high school athletes at routine physicals based on guidelines or family history or family request. Have picked up a few long QT and WPW possibilities which are then referred to pediatric cardiologists, a luxury perhaps here in a metro area.
I have not followed the Hamlin case very closely, but I would guess from the video it was vfib/impact induced (commotio). I know many others have dangerous jobs, but watching the hits and physical damage that happens in football, leading to chronic pain, CTE, and all the rest, has forced me to look away from a sport I used to love as a kid.
I can’t watch it anymore.
Thanks again for this post and the previous about Grant. Helps motivate me personally and professionally to be careful and proactive.
Hey Ryan, thanks so much for this note, and I'm honored to have someone doing the work you're doing here, and leaving thoughtful comments!
I used to love football too, and still find it really compelling on the rare occasions I do see it, but I almost never do anymore, since I don't have a TV or an TV subscription...so the choice is made easy for me;) Really, though, it is interesting to see the ethical discussion provoked by the Hamlin case, given the inherent violence in the sport even when everything is going as planned. ...I wonder why boxing doesn't attract as much attention, given that it's indefensible from a medical standpoint. Perhaps it's just not as popular? Or spectators just doesn't care about the competitors the same way? Would be curious what you think...
In any case, I also just want to thank you for an eloquent comment. These are two beautiful lines I'll remember: "We ran so hard I often worried about my own heart. And to lose another friend (Grant Wahl) recently must bring up old sadness and new."
I love that you have no TV either! We are semi-Luddites, too, and when Comcast gobbled up the broadcast rights to Philly teams (Phillies, Flyers, etc) it marked my exit from obsessively watching pro sports. It's just too big business for me, and I naively thought as a kid that a team calling themselves the "Philadelphia Phillies" and playing at "Veterans Stadium," or even a team honoring the "Philadelphia (17)76ers" would have some inherent civic obligation to at least broadcast on the open airwaves for the people of the poorest big city in America to watch...
And you are so right about football being the centerpiece in a discussion about violence in sports, and the indefensibility from a medical standpoint. I can't watch boxing anymore either although I love it, and never could stomach MMA even in my testosterone fueled younger days. You would know much better than I, but perhaps those sports are more transparently pugilistic, ones we usually don't let our kids play, and ones that individuals can be singled out for the consequences of their risky choices, instead of a whole team being complicit?
Will add The Sports Gene to my reading list!
> Nobody ever really suggested genetically screening every athlete anyway.
Indeed. With WGS at $100-500, the rational suggestion is to genetically screen *everyone*, pre-natally, for all the rare diseases, and not merely the heel-prick subset.
Just to clarify, your suggestion is that we screen everyone prenatally, as opposed to neonatally?
Yes. Since everyone is going to get sequenced eventually, it's too important for things like pharmacogenomics or adult disease risk prediction or research to not get sequenced, the only question is 'when'. The obvious answer is that since such information is useful throughout one's life, sooner = better. As sequencing gets more sensitive, and you also have on file parental genomes (as a matter of course from *earlier* sequence-everyone-ing) which makes imputation and reconstruction more efficient, you can do so routinely with circulating cells and whatnot. And you should do so, rather than waiting for some neonatal process to return results days or weeks after birth, so you can diagnose well in advance and be ready to treat all rare Mendelian disorders, especially the metabolic ones, the instant the baby is disconnected from the mother's metabolism. Many are treatable, and the faster treatment is begun, the less damage there is. (This would also help bring closure to some cases of miscarriage, where there was probably a fatal de novo, and I'm sure other uses we are too unambitious to think of now.)
Seems like a reasonable idea to me. I worry that we'd develop some of the same problems that other mass screening efforts have engendered, but as far as the rare Mendelian disorders, makes a ton of sense. And could be great for research too. In terms of the known screening issues, I think the devils would be in the details of implementation and communication — same as it is now, I suppose. Thanks for this comment!
The bottlenecks at the moment are in:
- reliable, faithful long-term information storage,
- interpretations of the results, including the classic genetics conundrum concerning secret genealogical histories
- what to do with the sequence variants that are not (yet?) actionable or do not correspond to protein-coding regions, both of which are the vast majority
- and a massive one concerning data security and privacy over a lifetime,
but I agree in principle on the technical approach.
David, as a rare disease researcher myself, I appreciated this very much: "I began to learn how really complicated genetic research is, and why 20 years of promises about genetically personalized medicine have failed to materialize. Even the “simple” diseases aren’t simple." You get it.
As soon as I heard about and saw the Hamlin news, I thought about both Hank Gathers and your story (Kevin, ETHS and the Sports Gene). Obviously a bit different, but figured you’d be sharing something interesting on this subject.
Yo Henry! Nice to hear from you. ...I initially talked myself out of writing anything since I haven't actively kept up with the issue. But then I figured: what is this newsletter for if not sharing in a sort of informal voice, and providing some links, and then updating if I learn more! ...In any case, cool to see you here, and would love to catch up sometime
Great article, David. I really appreciate how clearly and sensibly you explain your recommendations. I also really like how open you are about your career decisions. One question on the personal genetics-based medicine front. From what I took from what you wrote, it sounds like it is the complexity of the genome (and number of genes involved in each trait) is what is holding the field back. Do you think it's a data processing problem or something more fundamental? By that I mean do you think that an increase in computing power/analysis will be able to overcome that? Or do you think the problem is bigger than that? The paper you linked to didn't seem very optimistic. Thanks!
(By the way, do you know more about the history of Italy having had nearly open admissions to med school? That sounds fascinating. Do the downsides (slightly lower average quality of doctor?) outweigh the huge upside of just simply having more doctors? I know people like Ezra Klein, Derek Thompson, and more have advocated for an abundance agenda, and this sounds similar. Also, I can't help but ask/quip if it was with a Fermi approximation that you questioned the 8 doctors per thousand people statistic ;)
Hey Matt, as far as personal genetics, I think it's a mix. I should say, I think there have been some incredible achievements related to certain rare diseases, and even the ability to screen for the more common HCM mutations is fantastic when it's clear a family has it. As far as more common diseases, though, I think the issue is multifaceted. First, yes, I think there's a data processing issue. A few years ago I was at NIH, and they showed me the fancy new "high throughput" genome sequencing machines, and then someone explained to me that now they would be able to pile up even more data much faster than they could analyze it! The cinch in the hose was biostatisticians. So I do think there's a data issue. That said, I think it's clear now that in many cases the effects of each of the contributing genes (and non-gene parts of the genome, which used to be called "junk DNA," but no longer...) are so tiny that they're essentially impossible to detect. Even very simple to measure traits, like height, even with studies of of thousands of people, fail to find many of the genetic inputs. (I recall, for example, a study with 4,000 subjects that identified 300,000 spots on the genome that seemed to be influencing height, and that still left the majority of inherited height difference between people unidentified.) So that's another issue, and on top of it you have the fact that there are many different pathways to get the same physiological outcome, so that makes the research even more complex. And, finally, I think the most important factors contributing to the most common illnesses these days — metabolic syndrome, asthma, allergies, type II diabetes, common cardiovascular diseases, etc — are more environmentally than genetically influenced. And to make matters more confusing, sometimes genes start to matter only when the environment changes. Here's the great Alex Hutchinson writing about a study showing that the gene most well-known as associated with obesity only started to matter in the mid-20th century: https://www.theglobeandmail.com/amp/life/health-and-fitness/fitness/what-our-genes-tell-us-about-our-health/article22724898/
...There are some more layers of complication, but I'll leave it there for now. This isn't to say I don't think we'll make medical progress, but I think more often it'll come from understanding the physiology better directly, as opposed to the genetics, if that makes sense. Sometimes, I think asking about genetic testing is akin to testing someone for height genes and getting a partial picture when you could instead use a tape measure.
I used to know more about the history in Italy, and couldn't find the book that detailed it as I was dashing off this post. But I'll look for it in my boxes and see if I can find it. I first learned about this from attending conferences where cardiologists from Europe and the US would debate about whether what happens in Italy could be done in other countries. As far as downsides, I don't really know. On the one hand, for someone to spend a career reading ECGs, I doubt they necessarily need to go through med school for that, so if I were emperor and wanted to mimic that program, I'd probably make an ECG technician program or something. (I don't know if Ezra and Derek talk about this, but it seems to me that gatekeeping in the form of intentionally onerous licensing requirements sometimes decreases supply of professionals unneccessarily.) And ultimately I have no idea how to weigh the Italian system. What would those people have been doing otherwise? I have no idea, but given Italy's top-heavy population, maybe it'll be especially useful. I don't have a good answer here! And I do think some of it depends on what we'd use more doctors for. If the incentive system is such that we're heavy with plastic surgeons (which may be the case), we may not need much more of that. And there's no evidence I know of to suggest that the annual checkup for asymptomatic patients is worthwhile. So I think a lot depends on the structure of the system, not only the supply
...as far as Fermi estimation, of course;) When I saw 8 and spent some time thinking about it, it didn't feel impossible, just very high, so I checked for other sources, and saw some differences. Our World In Data, which I love, has 8 using the World Bank data, so maybe I'll reach out to them and see what they think.
Thanks for such a thorough reply! The picture you paint about genetic research is so much more complicated than I'd assumed. With that being the case, I hope medicine heeds the advice of the article you linked to. And thanks for the height analogy. It really helps crystalize the point you're making. And at this point you've mentioned Alex Hutchinson enough that it's probably time I read Endure.
Also, point taken with regards to Italy. More doctors (or, at the very least, people with medical training) seems to be a good thing, but like you said it's more nuanced than that. I'm from LA, so I certainly hear your point about not needing more plastic surgeons. Glad to see my hunch was right about the Fermi estimation!
As far as Endure, I'll just say, that was basically a book I wanted to write, but I'm glad Alex did because I'm not sure I would've done as well. ...And I should say, for some rare conditions that follow clear inheritance patterns, genetic testing has been a miracle. Even with HCM, for families who do have one of the known mutations, it definitely saves lives because you can instantly check the entire family tree.
I had never heard of ICDs, especially not in athletes, and the info was both fascinating and uplifting. To think their effectiveness, as studied, is so high, and yet we do not hear more about them. Condolences on the tragic loss of your friend as well as this vital information this lead you to investigate that might just help someone save a life.
Jamie, this is the ultimate compliment. Thanks so much for reading, and I'm so glad you found something new here.
Really appreciate your article, David! I had a pacemaker (not ICD) implanted almost four years ago and people assumed that I would give up my 3x a week weightlifting regimen and playing contact sports (I am a field hockey goalie). I have definitely not! Just saw my cardiologist yesterday and they said what many people do not consider is that the injury to Damar Hamlin was a perfect storm of circumstances. Yes, football is dangerous, but these types of cardiac arrest events in sports are relatively rare.
Meg, very well put, and I'm so glad to hear that you've been able to keep...well, to keep keeping goal;)
In some ways, I think the shock on display right now is actually because it's so rare, and that's a great thing.