Medicine

Knowing more than we can see

by reestheskin on 05/12/2019

Comments are disabled

I spent near on ten years thinking about automated skin cancer detection. There are various approaches you might use — cyborg human/machine hybrids were my personal favourite — but we settled on more standard machine learning approaches. Conceptually what you need is straightforward: data to learn from, and ways to lever the historical data to the future examples. The following quote is apposite.

One is that, for all the advances in machine learning, machines are still not very good at learning. Most humans need a few dozen hours to master driving. Waymo’s cars have had over 10m miles of practice, and still fall short. And once humans have learned to drive, even on the easy streets of Phoenix, they can, with a little effort, apply that knowledge anywhere, rapidly learning to adapt their skills to rush-hour Bangkok or a gravel-track in rural Greece.

Driverless cars are stuck in a jam – Autonomous vehicles

You see exactly the same thing with skin cancer. With a relatively small number of examples, you can train (human) novices to be much better than most doctors. By contrast, with the machines you need literally hundreds and thousands of examples. Even when you start with large databases, as you parse the diagnostic groups, you quickly find out that for many ‘types’ you have only a few examples to learn from. The rate limiting factor becomes acquiring mega-databases cheaply. The best way to do this is to change data acquisition from a ‘research task’ to a matter of grabbing data that was collected routinely for other purposes (there is a lot of money in digital waste — ask Google).

Noam Chomsky had a few statements germane to this and much else that gets in the way of such goals (1).

Plato’s problem: How can we know so much when the evidence is do slight.

Orwell’s problem: How do we remain so ignorant when the evidence is so overwhelming.

(1): Noam Chomsky: Ideas and Ideals, Cambridge University Press, (1999). Neil Smith.

A job for life

In the essay “Telling,” he describes the upsetting case of the director of a hospital who, struck down by Alzheimer’s, is admitted to his own hospital. He behaves as if he were still running it, until one day by chance he picks up his own chart. “That’s me,” he says, recognizing his name on the cover. Inside, he reads “Alzheimer’s disease” and weeps. In the same hospital a former janitor is admitted; he too is convinced that he is still working there. He is given harmless tasks to perform; one day he dies of a sudden heart attack “without perhaps ever realising that he had been anything but a janitor with a lifetime of loyal work behind him.”

Truth, Beauty, and Oliver Sacks | by Simon Callow | The New York Review of Books

My mother, a nurse, took on such imagined roles when she too was demented and in a care home.

Pharma: business as usual

by reestheskin on 29/11/2019

Comments are disabled

The article is about pharma and the way its interests flit because of perceived commercial rather than clinical value. There are two phrases that should make you sit up.

  1. ‘Scientists were given incentives to meet milestones in the clinical trials,’
  2. ‘One precondition for success is a large salesforce’.

The first phrase, is scary. We already know how dishonest much of pharma is. We can manage well without more perverse incentives. Short term shareholder value wins over morality every time.

The second begs the question: if the evidence is good, why do you need to flog your medicine with advertising? A collection of data sheets — with citations — is all you need. And since most pharma spends more on advertising than research, here is a simple way to reduce drug costs. (The answer is of course, that advertising sells more than research — shame on us all).

Novartis cholesterol deal highlights mass-market opportunity | Financial Times

Costs of business

by reestheskin on 26/11/2019

Comments are disabled

This is from the Guardian. The background is serious allergic reactions to food components, and allowing accessible information about what purchased food contains. In her phrase, ‘high-profile casualties on the high street’ she is referring to businesses; I am sure others may have read it differently.

But Kate Nicholls, the chief executive of UKHospitality, said a law change could have a serious impact on the viability of some of the 100,000 restaurants her organisation represents. “Hospitality and particularly high street restaurants are under intense cost pressures and are struggling,” she said. We’ve had a number of high-profile casualties on the high street. Those businesses operate on tight net profit margins. And there’s no doubt some would not be able to cope with any significant change in their cost structure.”

(BTW: she thinks ‘training’ is the solution. Training and education are offered as the answer to everything…”education, education, education”. If only.)

Grieving family’s call for allergy law gets cool response | Society | The Guardian

Medicine is just one technology

by reestheskin on 08/11/2019

Comments are disabled

From Wikipedia.

Putt’s Law: “Technology is dominated by two types of people, those who understand what they do not manage and those who manage what they do not understand.”

 

Putt’s Corollary: “Every technical hierarchy, in time, develops a competence inversion.” with incompetence being “flushed out of the lower levels” of a technocratic hierarchy, ensuring that technically competent people remain directly in charge of the actual technology while those without technical competence move into management.

Putt’s Law and the Successful Technocrat – Wikipedia

The art of the insoluble

by reestheskin on 30/10/2019

Comments are disabled

The following is from an advert for a clinical academic in a surgical specialty, one with significant on call responsibilities. (It is not from Edinburgh).

‘you will be able to define, develop, and establish a high quality patient-centred research programme’

‘in addition to the above, you will be expected to raise substantial research income and deliver excellent research outputs’

Leaving aside the debasement of language, I simply cannot believe such jobs are viable long term. Many years ago, I was looked after by a surgical academic. A few years later he/she moved to another centre, and I was puzzled as to why he/she had made this career move. I queried a NHS surgeon in the same hospital about this career path. “Bad outcomes”, was the response. She/He needed a clean start somewhere else…

Traditional non-clinical academic careers include research, teaching and administration. Increasingly it is recognised that it is rarely possible to all three well. For clinical academics the situation is worse, as 50% of your time is supposed to be devoted to providing patient care. Over time the NHS workload has become more onerous in that consultants enjoy less support from junior doctors and NHS hospitals have become much less efficient.

All sorts of legitimate questions can be asked about the relation between expertise and how much of your time is devoted to that particular role. For craft specialities — and I would include dermatology, pathology, radiology in this category — there may be ways to stay competent. Subspecialisation is one approach (my choice) but even this may be inadequate. In many areas of medicine I simply do not believe it is possible to maintain acceptable clinical skills and be active in meaningful research.

Sam Shuster always drilled in to me that there were only two reasons academics should see patients: to teach on them, and to foster their research. Academics are not there to provide ‘service’. Some juniors recognise this issue but are reticent about speaking openly about it. But chase the footfall, or lack of it, into clinical academic careers.

Depersonalisation and deprofessionalisation

by reestheskin on 28/10/2019

Comments are disabled

I am generally nervous about doctors or academics working for the government. Not that I think the roles are unnecessary, far from it. But what worries me is when instead of resigning from their academic role, they end up working for more than one master. So, I tire of the use of university titles when the principle employer does not subscribe to the academic ideal. I think if you have been at Stanford and you go to Washington it should be as a regular civil service post. I think the Americans get it right.

But the retiring CMO, Dame Sally Davies, in an interview in the RCP in-house journal ‘Commentary’ speaks some truths (Commentary | October 2019, p10).

I hear non-stop stories from unhappy juniors. In my day, we (consultants) made up the rotas for the juniors, but now administrators do it without understanding all of the issues. I’m told you can’t go back to the ‘firm’ structure because there are so many doctors in the system, but whenever I meet a roomful of young doctors I ask: ‘Does your consultant know your name?’ It’s rare that a hand goes up. We have depersonalised the relationships between doctors and that can’t help the workings of the medial team, or with the patients.

Your mileage may vary, but when I was a junior doctor it was us — not the consultants — who came up with the rotas. But the point she makes is important, and everybody knows this (already). At one time junior doctors didn’t work for the NHS, rather they worked within the NHS for other doctors, for good and bad. I find it hard to imagine that the current system can deliver genuine apprenticeship learning. Training and service may often have resembled a bickering couple, but there was a broader professional context that was shared. I am not certain that this is the case anymore. Whenever people keep pushing words such as ‘reflection’ or ‘professionalism’, you know — pace Orwell — that the opposite is going on. Politics is a dominant-negative mutation.

Of Reliability and validity

by reestheskin on 16/10/2019

Comments are disabled

One of the mantras of psychometrics 101 is that you cannot have validity without reliability. People expel this phrase, like others equilibrate after eating curry and nan-breads with too much gassy beer. In truth, the Platonic obsession with reliability diminishes validity. The world of science and much professional practice, remains messy, and vague until it is ‘done’. The search space for those diamonds of sense and order remains infinite.

Many years in the making, DSM-5 appeared in 2013, to a chorus of criticism; Harrington summarises this crisply (Gary Greenberg’s 2013 Book of Woe gives a painful blow-by-blow account). Harrington suggests that the proliferating symptom categories ceased to carry conviction; in the USA, the leadership of the US National Institutes of Health pivoted away from the DSM approach—“100% reliability 0% validity”, as Harrington writes—stating they would only fund projects with clearly defined biological hypotheses. The big players in the pharmaceutical industry folded their tents and withdrew from the field, turning to more tractable targets, notably cancer. For some mental health problems, psychological therapies, such as cognitive behaviour therapy (CBT), are becoming more popular, sometimes in combination with pharmacotherapy; as Harrington points out, even as far back as the 1970s, trials had shown that CBT outperformed imipramine as a treatment for depression.

Biological psychiatry’s decline and fall | Anne Harrington, Mind Fixers: Psychiatry’s Troubled Search for the Biology of Mental Illness, W W Norton (2019), p. 384, US$ 27·95, ISBN: 9780393071221 – ScienceDirect

Big Tobacco, war and politics

by reestheskin on 11/10/2019

Comments are disabled

Tobacco killed an estimated 100 million people in the twentieth century. Without radical action, it is projected to kill around one billion in the twenty-first.

Big Tobacco, war and politics

Innovation theatre: because you are worth it.

by reestheskin on 03/10/2019

Comments are disabled

I used to use the phrase — with apologies to Freud — ‘eppendorf envy’ to describe the bias in much medical innovation whereby useful advance pretended it owed its magic to ‘basic’ science. Doctors wore white coats in order to sprinkle the laboratory magic on as a veneer. But I like this cognate term also: innovation theatre.

To be fair to the banks, they weren’t the first institutions to recognise the PR value of what Rich Turrin has dubbed innovation theatre. Many institutions before them had cottoned on to the fact that it was a way to score easy points with the public and investors. Think of high impact campaigns featuring “the science bit” for L’Oréal’s Elvive shampoo or Tefal appliance ads: “We have the technology because we have the brains”.

The financial sector has seen enough innovation theatre | Financial Times. The orignal reference is here.

Medical education in an age of austerity

by reestheskin on 23/09/2019

Comments are disabled

There is a collection of articles on health care in the FT today. This caught my mind:

At the same time, there has been a growing “pull” from the UK and other richer nations for doctors and nurses from Africa, as their own health systems have struggled to train and retain sufficient local healthcare workers while demand from ageing populations continues to rise.

I am aware of the issue but keep being pulled back to the claims about how expensive it is to train doctors (in the UK or other similar countries). Yes, I know the oft wheeled out figures, but I am suspicious of them.

Education is an experience understood in tranquillity

Nice few words about Charles Handy in the Economist who has been recovering from a stroke. He has had to relearn walking, talking and swallowing.

As far as Mr Handy was concerned, the point of his hospital stay was to allow him to recover as fully as possible. That meant he needed to be up and about. In the view of the nurses, that was a potential problem; he might fall and hurt himself. Their priority was to keep him safe. In practice, that required him to stay in bed and keep out of trouble.

He mused on some themes all too familiar, namely how the organisational obsession with efficiency often results in organisations not being effective.

The purpose of education is to prepare children for later life, but all too often the focus is on getting the children to pass exams.

He saves some special words for Human Remains Resources:

As it is, there is a temptation to try to turn people into things by calling them “human resources”. Call someone a resource, and it is a small step to assuming that they can be treated like a thing, subject to being controlled and, ultimately, dispensed with when surplus to requirements.

(The most egregious example of the above is how NHS management refer to preregistration doctors as ‘ward resources’ rather than doctors who are apprenticed to other doctors.)

Sadly his knowledge of the type of modern corporation we call ‘universities’ is out of date.

Indeed, Mr Handy argues that most organisations whose principal assets are skilled people, such as universities or law firms, tend not to use the term “manager”. Those in charge of them are called deans, directors or partners. Their real job is best described as leadership rather than management. And one of the primary functions of leadership is setting the right purpose for an organisation.

If only.

Direct URL  for this post.

A Study in the History of Civilisation

A remarkable book by a remarkable man. But what ambition!

 

 

 

 

 

 

 

 

Direct URL for this post.

NHS founder’s relative died after ‘neglect’.

by reestheskin on 26/07/2019

Comments are disabled

A relative of Nye Bevan, the founder of the NHS, died after serious mistakes by two hospital trusts meant his lung cancer went from treatable to incurable… 

Link

(Image courtesy of Alun of Penglas).

Mental Health Services for Medical Students

Medical students have higher rates of depression, suicidal ideation, and burnout than the general population and greater concerns about the stigma of mental illness. The nature of medical education seems to contribute to this disparity, since students entering medical school score better on indicators of mental health than similarly aged college graduates. Roughly half of students experience burnout, and 10% report suicidal ideation during medical school

NEJM

This is from the US, and I do not know the comparable figures for the UK. Nor as I really certain what is going on in a way that sheds light on causation or what has changed. By way of comparison, for early postgraduate training in the UK, I am staggered by how many doctors come through it unscathed. I don’t blame those who want to bail out.

Direct URL for this post.

Statistics and empathy

An economist may have strong views on the benefits of vaccination, for example, but is still no expert on the subject. And I often cringe when I hear a doctor trying to prove a point by using statistics.

Age of the expert as policymaker is coming to an end | Financial Times

There were some critical comments about this phrase used by Wolfgang Münchau in a FT article. The article is about how ‘experts’ lose their power as they lose their independence. This is rightly a big story, one that is not going away, and one the universities with their love of mammon and ‘impact’ seem to wish was otherwise. But there is a more specific point too.

Various commentators argued that because medicine took advantage of statistical ideas that doctors talked sense about statistics. The literature is fairly decisive on this point: most doctors tend to be lousy at statistics, whereas the medical literature may or (frequently) may not be sound on various statistical issues.

Whenever I hear people talk up the need for better ‘communication skills’ or ‘communication training’ for our medical students, I question what level of advanced statistical training they are referring to. Blank stares, result. Statistics is hard, communicating statistics even harder. Our students tend to be great at communicating or signalling empathy, but those with an empathy for numbers often end up elsewhere in the university.

Direct URL for this post.

Precision medicine and a den of robbers

I have removed the name of the institution only because so many queue to sell their vapourware in this manner

Precision Medicine is a revolution in healthcare. Our world-leading biomedical researchers are at the forefront of this revolution, developing new early diagnostics and treatments for chronic diseases including cancer, cardiovascular disease, diabetes, arthritis and stroke. Partnering with XXXXX, the University of XXXX has driven … vision in Precision Medicine, including the development of a shitload of infrastructure to support imaging, molecular pathology and precision medicine clinical trials……  XXXXXX is now one of the foremost locations in a three mile radius to pursue advances in Precision Medicine.

And He declared to them, “It is written: ‘My house will be called a house of prayer. But you are making it ‘a den of robbers.'” Matthew 21:13

Direct URL for this post.

Surgeons?

”A lot of patients are still having open surgery when they should be getting minimal access surgery,” said Mr Slack, a surgeon at Addenbrooke’s Hospital in Cambridge. “Robotics will help surgeons who don’t have the hand-eye co-ordination or dexterity to do minimal access surgery.”

Trial of new generation of surgical robots claims success | Financial Times

Direct URL for this post.

Moving on

Now I’m the one contemplating a permanent departure. My health is fine, but my stamina is pretty much gone. Our health care system is not kind to the chronically ill and marginally insured, and it is not particularly kind to their doctors, either. Our patients are condemned to an unending swim against a hostile tide. Doctors can head for shore.

Moving On | NEJM. |  Beautifully written piece by retiring US physician, Abigail Zuger, M.D.

Last week I was talking to somebody who was not a doctor, but who had ‘gone off the grid’ and was commenting on how many ‘professionals’ were bailing out, often in their late 30s, looking for something their professional career was not giving them. As they say, fish do not know what water is, but when you head for land, things seem different.

Direct URL for this post.

On Expertise

‘The Socratic slogan- “If you understand it, you can explain it’, should be reversed.  Anyone who thinks he can fully explain his skill, does not have expert understanding’.

Hubert Dreyfus.

Direct URL for this post.

That was yesterday

GlaxoSmithKline is to reintroduce performance-based bonuses linked to the number of prescriptions written for its medicines, reversing a company ban on the practice following a bribery scandal in the US….

The company was fined $3bn in 2012 after it admitted bribing doctors to write extra prescriptions for some products. As part of the settlement with US authorities, the drugmaker agreed it would no longer pay reps according to the number of prescriptions generated. That agreement has since lapsed.

GlaxoSmithKline revamps incentives for sales representatives | Financial Times

Direct URL for this post.

The information society

by reestheskin on 27/05/2019

Comments are disabled

This is a little old, but I snapped it as I was passing through a hospital. It speaks volumes about the state of learning and engagement in the NHS.

We will need even bigger prisons

Mr Kapoor’s co-defendants were Michael Gurry, Insys’s former vice-president of managed markets, Richard Simon, former national director of sales, and former regional sales directors Sunrise Lee and Joseph Rowan. Michael Babich, former chief executive of the company, and Alec Burklakoff, former vice-president of sales, had already pleaded guilty.

The defendants face up to 20 years in prison. Andrew Lelling, US attorney for Massachusetts, said it was “the first successful prosecution of top pharmaceutical executives for crimes related to the illicit marketing and prescribing of opioids”.

Insys founder convicted in opioid bribery case | Financial Times

Direct URL for this post.

A diagnosis not to miss: email apnea

A phenomenon that occurs when a person opens their email inbox to find many unread messages, inducing a “fight-or-flight” response that causes the person to stop breathing.

James Williams, ‘Stand Out of Our Light’

I wonder when this will be recognised as a bona fide occupational disease.

Direct URL for this post.

You need a wallet biopsy

“However, if a wallet biopsy – one of the procedures in which American hospitals specialise – discloses that the victims are uninsured, it transfers them to public institutions.”

In Paul Starr, ‘The Social Transformation of American Medicine’.

Direct URL for this post.

Why wait so long?

Apparently, on average, doctors interrupt patients within eighteen seconds of beginning their story. When we tell lawyers about this, they wonder why their medical friends wait so long.

Quoted in the ‘The Future of the Professions

Direct URL for this post.

The Economist | The AI will see you now

by reestheskin on 19/04/2019

Comments are disabled

I read an earlier book of Eric Topol’s (The Creative Destruction of Medicine: How the Digital Revolution Will Create Better Health Care) and got a lot out of it, although I don’t know to what extent his ideas will come to pass. The Economist reviewed his more recent book, “Deep Medicine: How Artificial Intelligence Can Make Healthcare Human Again”.

The Economist reports:

The fear the author harbours [referring to Topol] is that AI will be used to deepen the assembly-line culture of modern medicine. If it confers a “gift of time” on doctors, he argues that this bonus should be used to prolong consultations, rather than simply speeding through them more efficiently.

But then goes on, in true Economist style:

That is a fine idea, but as health swallows an ever-bigger share of national wealth, greater efficiency is exactly what is needed, at least so far as governments and insurers are concerned…. An extra five minutes spent chatting with a patient is costly as well as valuable. The AI revolution will also empower managerial bean-counters, who will increasingly be able to calibrate and appraise every aspect of treatment. The autonomy of the doctor will inevitably be undermined, especially, perhaps, in public-health systems which are duty-bound to trim inessential costs.

Modern medicine — as implied — is already an assembly line culture. And yes, many of us think it will get worse. Staff retention will get worse, too. If you want to see the future of medicine as a career, look at what has happened to school teachers within public systems (or academics in most universities in the UK). Blame it all on poor Max Weber, if you will. Those in charge have very little feel for what ‘doing medicine’ is all about. But there seems to an elision between ‘greater efficiency is needed’ and talking to patients being ‘costly and valuable’. Interesting to note that only the public systems are obliged to trim ‘inessential costs’: Crony Capitalism feasts on the wants rather than the needs.

“There’s a classic medical aphorism,” he recalls. “‘Listen to the patient, they’re telling you the diagnosis.’ Actually, a lot of patients are just telling you a lot of rubbish, and you have to stop them and ask the pertinent questions.”

Jed Mercurio: ‘Facts used to have power. Now stupidity is a virtue’ | The Guardian

The question is when?

Direct URL for this post.

We have no doctors (again)

by reestheskin on 09/04/2019

Comments are disabled

We have no  incentives doctors.

Shortage of GPs will never end, health experts say | Society | The Guardian

OK, maybe the subeditor is to blame, but spare me the cartel of health think tanks and their pamphlets. Enticing people into general practice and keeping them there is not rocket science. When I was a junior doctor getting onto the best GP schemes around Newcastle was harder than getting the ‘professorial house-jobs’. Many people like, and want to be, GPs. If general practice is dying , it is in large part because the NHS is killing real general practice.

A few years back I wrote a personal view in the BMJ, arguing that an alternative model for dermatology in the UK would be to use office dermatologists, as in most of the first world. It is likely cheaper and capable of providing better care as long as you consider skin disease worthy of treatment. The feedback was not good or in some instances, even polite. The more considered views were that my suggestion was simply not possible: how would we train these people? Well jump on a ferry or book Ryanair, and look how the rest of Europe does it.

There are some general discussion points:

  1. The various NHS’s in the UK do many things very badly. The comparison is all too often with west of Shannon, rather than that body of land closer to us.
  2. The proportion of ‘health staff’ who are doctors has been dropping for over a century. This trend will — and should —continue.
  3. I write from Scotland: Adam Smith worked out the essential role of specialisation in economic efficiency many centuries ago. Conceptually, little has changed since, except the cost of health care.
  4. The limit on my third point is transaction costs of movement between specialised agents. This is akin to Ronald Coase and the theory of the firm: why do we outsource and when do firms outsource? How do we create — to use a software phrase — the right APIs
  5. Accreditation and a professional registration are there to protect the public. We will only encourage staff to take on the new roles needed  if  there is a return on their personal investment, in return for formal admission to the appropriate guilds. These qualifications need to be widely recognised and transferable, and the guilds will need to be UK wide (or, in the longer term, wider still).
  6. The current system of accreditation for those providing clinical care is bizarre. Imagine, you know a bright and ambitious teenager. You tell her to come and sit in your dermatology clinic for 5 years and, at the end, you employ her in your practice as a dermatologist — initially under your supervision. Well, we know that is not a sensible way to train doctors, but this is indeed the way the NHS is going about training those who will provide much face to face clinical care. Got a skin rash — see the nurse! (for a couple of personal anecdotes,  see below).
  7. The current system of accreditation for a particularly role for doctors is based around individual registration (with the General Medical Council). What the public require is however evidence of registration for defined roles and procedures (using the term procedure in a broad sense, and not just as in a ‘surgical procedure’). If somebody is a dental hygienist they are registered with the General Dental Council. This makes sense. The sleight of hand in medicine is that individual hospitals or practices have taken on the role of accreditation. I suspect if private individuals — rather than the NHS or its proxies — did this, they would be considered to be riding roughshod over the Medical Act (I am no lawyer…).
  8. Accreditation of  medical competence at the organisation level is indeed a possible alternative to individual personal registration. It might even have advantages. But this has not been the norm in the UK (or anywhere else), and the systems to do this are not in place.

Two personal examples:

I received an orthopaedic operation under a GA at a major teaching hospital. I was in the my mid 50’s, and previously fit. At the clerking / pre-op assessment by a nurse, my pulse and BP were recorded, and my urine was tested. I was asked : “Are your heart sounds normal and do you have any heart murmurs?” (There was no physical examination). My quip — that how could you trust a dermatologist on such matters — was met with a total lack of recognition. I recounted the story to the anaesthetist as a line was inserted in my arm. I also mentioned, for effect, that they didn’t ask about my dextrocardia….( I achieved the appropriate response — to this untruth). Subsequent conversations with anaesthetists confirmed that their opinions were in keeping with mine, and this “was management” and ‘new innovative ways of killing working’.

As a second year medical student, with a strong atopic background (skin, lungs, hay fever etc). I came out in what I now know to be widespread urticaria with angioedema. On going to the university health centre, the receptionist triaged me to the nurse, because it was ‘only skin’. I didn’t receive a diagnosis, just an admonition that this was likely due to not washing enough (which may have been incidentally true or false…). A more senior medical student provided me with the right diagnosis over lunch.

The latter example chimed with me, because  DR Laurence in his eclectic student textbook of Clinical Pharmacology lampooned the idea that nurses had ‘innate’ understandings of GI pharmacology, a delusion that remained widespread through my early medical career. Now, sadly, similar prescientific reasoning underpins much UK dermatology. The public are not well served.

P53: You have no idea

by reestheskin on 04/04/2019

Comments are disabled

P53 and Me | NEJM

A long, long time ago, I published papers on p53 and skin (demonstrating p53 upregulation in a UVR wavelength specific way). But germline mutations are something else. The account below is from a US medical student with Li-Fraumeni syndrome (germline p53 mutations)

The changes to my outlook, my psyche, have been much more profound. It’s impossible to describe the unique panic that comes with imagining that any of your cells could decide to rebel at any moment — to propagate, proliferate, “deranged and ambitious,” as my anatomy professor remarked of cancer. It sounds like a paranoid medical student’s fugue-state nightmare. Any cancer at any time: a recurrence, a new primary, a treatment-related malignancy. Some are more likely than others: brain, colon, leukemia, sarcomas. But the improvisation of my cells and their environment is the only limit. And then there are more practical questions: Should I wear sunscreen every day, or is it better just to stay inside?

I recently saw a college friend I hadn’t seen in 10 years and told her about my mutation. Nonmedical people react badly to such news. Medical people probably would, too, but we have rehearsed emotional distance, so our reactions often stay internal, to be unearthed later. “You must be very careful about what you…eat? Drink? What you…put into your body?” she said.

“No,” I said. “There’s no point to that.”

“Oh,” she said, saddened. “This must have changed you. It must really affect the way that you see…the world?”

I nodded, thinking, You have no idea.

Indeed.