Mar 12th 2020
NEENA NIZAR is 42 years old, a professor of business studies and just 122cm tall. The ends of her bones are soft and pliable: on an x-ray they look frayed, like old paintbrushes. During her childhood and adolescence in Dubai she was operated on 30 times. The source of her problem remained a mystery. In 2010, after three decades of wondering, she finally received a diagnosis: Jansens Metaphyseal Chondrodysplasia, a condition first recognised in the 1930s. Her problems stem from a broken copy of just one of her 20,000 genes.
Dr Nizar is in some ways very unusual. Fewer than one in 200m people have the mutation to the PTH1R gene that causes Jansens disease. In other ways she is like everyone else. Although few people have a defect as debilitating, everyones health, and ill-health, is tied to the contents of their genomes. All genomes contain arrangements of genes that make psychological disorders, cancers, dementias or circulatory diseases either more of a problem or less of one. Everyone has genes that make them better or worse at metabolising drugs, more or less likely to benefit from specific forms of exercise, better able to digest some foods than others.
The same arrangement will never be seen twice. Though for identical twins the differences are the height of subtlety, each of the 7.5bn human genomes sharing the planet is unique. That irreducible diversity represents a challenge to many of the 20th centurys greatest medical advances, which were based on a one-size-fits-all approach. Personalising medicine is an enticing opportunity for improvement.
Good doctors have always treated their patients as individuals. In the 20th century blood tests, X-rays, body scans and other diagnostic tools made the specifics of each patients particular problems ever more visible. A spectacular reduction in the cost of reading, or sequencing, the DNA bases that make up human genetic information is adding a new level of individuality. It is now possible to inspect genetic differences with an ease previously unimaginable, and thus to know something about propensities to disease well before any symptoms show up.
Nobody knows exactly how many human genomes have been fully sequenced, and different sequencing procedures read the genome to different degreesthere are quick skims and painstaking philological studies. But the number is in the millions (see chart). By the 2030s genome sequencing is likely to be as routine in some places as taking a pin-prick of blood from a babys heel is todayit may even be part of the same procedure. Genome science is becoming a matter of practical medicine. New therapies that make it possible to adjust or edit this genetic inheritance are coming to market.
This flood of data is allowing medicine to become more precise and more personalin many ways, the p-words are two sides of the same coin. Previously recognised genetic diseases, such as Jansens, have been traced to specific genes and can be connected to defects in the proteins they create (almost all genes describe proteins, and proteins do almost all the bodys chemical work). Most of these diseases are rare, in that they typically affect no more than one person in 2,000 in the general population. But with over 6,000 such rare diseases now recognised, this means they are common in the aggregate. In Britain one in 17 people can expect to suffer from a rare disease at some point.
Studies of genetic diseases are not just a worthwhile end in themselves. Understanding what goes wrong when a specific protein is out of whack can reveal basic information about the bodys workings that may be helpful for treating other ailments. And the growing understanding of how large sets of genes may contribute to disease is making it possible to pick out the patients most at risk from common diseases like diabetes, heart conditions and cancer. That will help doctors personalise their interventions. In theory, the rise in access to personal genetic information allows individuals to better calculate these risks and to take pre-emptive action. In practice, so far, few people seem to do so.
Genomics is not the only source of new personal-health data. Just as all genomes are unique, so are the lives that all those genome-carriers lead. The increase in other forms of data about individuals, whether in other molecular information from medical tests, electronic health records, or digital data recorded by cheap, ubiquitous sensors, makes what goes on in those lives ever easier to capture. The rise of artificial intelligence and cloud computing is making it possible to analyse this torrent of data.
Almost 4bn people carry smartphones that can monitor physical activity. It is estimated that by 2022, 1bn people may be wearing a device such as a smart watch that can monitor their heart rate. The data-driven giants and startups of Silicon Valley are eager to help. Consumers no longer need to go to a doctor for a genome scan or to engage with a wide range of opinion about what ails them, or will ail them. The pharmaceutical companies used to dominating medicine are working hard to keep up. So are doctors, hospitals and health systems.
These possibilities are not without their risks, drawbacks and potential for disappointment. The ability to pinpoint what has gone wrong in a genome does not make it easy to fix. Moreover, as technology helps people monitor themselves in more ways, the number of the worried well will swell and unnecessary care will grow. Many could be done real harm by an algorithmic mirage.
Beyond this, the move fast and break things attitude common in tech companies sits uneasily with first, do no harm. And the untrammelled, unsupervised and unaccountable means of data accrual seen in other industries which have undergone digital transformations sits uneasily with concerns over medical privacy.
The very nature of medicine, though, means that the future will not just be a matter of business goals, research cultures, technological prowess, wise practice and well-crafted regulations. It will also be subject to the driving interests of particular individuals in ways never seen before. The development of gene-based medical research in Britain was deeply affected by the short, difficult life of Ivan Cameron, whose father, David Cameron, did much to build up genomics when he was prime minister. Many of those working in this field are impelled by personal loss.
And then there are those whose interests stem from the way in which their own genes shape their lives. People like Dr Nizar, who is now crafting a new research agenda for Jansens disease. There may only be 30 people in the world who suffer from it. But two of them are her children, and they are in ceaseless pain. Science knows why; medicine cannot yet help. We believe in miracles, she says. She is also working to make one happen.
This article appeared in the Technology Quarterly section of the print edition under the headline "Populations of one"
Continued here:
Medicine is getting to grips with individuality - The Economist
- Podcast 9 Athens part 3 and news - November 8th, 2009 [November 8th, 2009]
- Podcast 10 Athens part 4 - November 8th, 2009 [November 8th, 2009]
- Podcast 11 Athens Part 5 - November 8th, 2009 [November 8th, 2009]
- Episode 12 Cardiac Nuclear Medicine in the UK - November 8th, 2009 [November 8th, 2009]
- Podcast 13 Choline PET and prostate cancer - November 8th, 2009 [November 8th, 2009]
- Episode14 ED function and Dysponea - November 8th, 2009 [November 8th, 2009]
- ep 15 Collimator Choice and Reconstruction algorithm - November 8th, 2009 [November 8th, 2009]
- Episode 16 Dr Strauss on vulnerable plaque - November 8th, 2009 [November 8th, 2009]
- Episode17 Chemical Stress - November 8th, 2009 [November 8th, 2009]
- Episode 18 Myocardial Perfusion Imaging and Diabetes - November 8th, 2009 [November 8th, 2009]
- Episode 19 The INSPIRE trial - November 8th, 2009 [November 8th, 2009]
- 20 Dual isotope with a difference - November 8th, 2009 [November 8th, 2009]
- Episode 21 The real effect of stress - November 8th, 2009 [November 8th, 2009]
- Episode 22 D-SPECT - November 8th, 2009 [November 8th, 2009]
- Episode 23 VQ Reprise - November 8th, 2009 [November 8th, 2009]
- Episode 24 Hepatobiliary Nuclear Medicine - November 8th, 2009 [November 8th, 2009]
- Episode 25 Sleep Apnea - November 8th, 2009 [November 8th, 2009]
- Episode 26 Imaging Post Traumatic Stress Disorder - November 8th, 2009 [November 8th, 2009]
- Episode 27 Cardiac Stem Cells - November 8th, 2009 [November 8th, 2009]
- Episode 28 Molly Supply - November 8th, 2009 [November 8th, 2009]
- Episode 29 Melanoma therapy interview with Dr Ekaterina Dadachova - November 8th, 2009 [November 8th, 2009]
- Episode 30 Viral Therapy - November 8th, 2009 [November 8th, 2009]
- Episode 31 breast radiotherapy using radioisotopes - November 8th, 2009 [November 8th, 2009]
- Episode 32 news from snm - November 8th, 2009 [November 8th, 2009]
- Episode 33 EBV Imaging and Therapy - November 8th, 2009 [November 8th, 2009]
- Episode 34 Dr Lele SNM India 2009 - December 14th, 2009 [December 14th, 2009]
- Episode 35 Dr Andrew Scott from the Ludwig institute - January 10th, 2010 [January 10th, 2010]
- Episode 36 CardiArc - February 25th, 2010 [February 25th, 2010]
- Episode 37 Dr Modder Radiosynoviorthesis (Radiation Synovectomy) - March 31st, 2010 [March 31st, 2010]
- Episode 38 Indian Nuclear Medicine With Dr Malhotra and Dr Krishna - May 28th, 2010 [May 28th, 2010]
- Episode 39 Prof Ora Israel The Utility of Hybrid Imaging - July 13th, 2010 [July 13th, 2010]
- Episode 40 New V/Q SPECT developments - October 11th, 2010 [October 11th, 2010]
- Episode 41 scintimun - February 14th, 2011 [February 14th, 2011]
- Episode 42 Radio-Isotope Supply into the future - March 6th, 2011 [March 6th, 2011]
- Podcast 4: DNA therapy - April 24th, 2011 [April 24th, 2011]
- Sorry about the delay a new podcast will be out soon! - April 24th, 2011 [April 24th, 2011]
- Podcast 5 Flash 3D - April 24th, 2011 [April 24th, 2011]
- Podcast 6 Affibody - April 24th, 2011 [April 24th, 2011]
- Podcast 7 EANM 2006 Athens Part 1 - April 24th, 2011 [April 24th, 2011]
- Podcast 8 Athens Part 2 - April 24th, 2011 [April 24th, 2011]
- Episode 43 Rapidscan Part 1, 720P high quality video version - May 1st, 2011 [May 1st, 2011]
- Episode 43 Rapidscan Part 1, Ipod quality video - May 1st, 2011 [May 1st, 2011]
- Episode 43 Rapidscan Part 1, Audio version - May 1st, 2011 [May 1st, 2011]
- Episode 45 Mummies with cardiovascular disease video - May 21st, 2011 [May 21st, 2011]
- Episode 45 Mummies with cardiovascular disease audio edition - May 21st, 2011 [May 21st, 2011]
- Episode 46 Dr Gordon DePuey Choosing Reconstruction clinical perspective - August 7th, 2011 [August 7th, 2011]
- Episode 46 Dr Gordon DePuey Choosing Reconstruction clinical perspective audio version - August 7th, 2011 [August 7th, 2011]
- Episode 47 Cardiac Image Fusion With Dr Kaufmann - September 18th, 2011 [September 18th, 2011]
- Episode 47 Cardiac Fusion with Dr Kaufmann video version - September 18th, 2011 [September 18th, 2011]
- Dear Steve, I am and many more like me are your one more thing. - October 9th, 2011 [October 9th, 2011]
- EPISODE 48 PET MRI camera from Siemens with Dr Georgi audio - October 23rd, 2011 [October 23rd, 2011]
- EPISODE 48 PET MRI camera from Siemens Dr Georgi video - October 23rd, 2011 [October 23rd, 2011]
- Silicon Biosystems to Present Single-Circulating Tumor Cell Molecular Characterization at the Fourth World CTC Summit - April 25th, 2012 [April 25th, 2012]
- Leukaemia cells have a remembrance of things past - April 25th, 2012 [April 25th, 2012]
- Technologist Education Requirements Can Help Cut Repeat Scans - April 25th, 2012 [April 25th, 2012]
- HKU Collaborative Research Discovers A Novel Molecular Mechanism Of A New Anti-HIV-1 Drug Candidate - April 25th, 2012 [April 25th, 2012]
- Focal Segmental Glomerulosclerosis and the Nephrotic Syndrome - Part 1 Clinical - Video - May 4th, 2012 [May 4th, 2012]
- Electro-Medicine : Biological Physics - The Molecular Basis of Alzheimers Disease - Video - May 4th, 2012 [May 4th, 2012]
- osdd heterocyclic compounds and molecular medicines - Video - May 4th, 2012 [May 4th, 2012]
- Molecule to Medicine: The Biomarker Frontier - Video - May 4th, 2012 [May 4th, 2012]
- Fulfilling the Promise of Molecular Medicine in a Developmental Brain Disorder - Video - May 4th, 2012 [May 4th, 2012]
- Focus on Stefanie Dimmeler - Video - May 4th, 2012 [May 4th, 2012]
- Dundee - May 4th, 2012 [May 4th, 2012]
- Nanotechnology In Medicine: Huge Potential, But What Are The Risks? - May 5th, 2012 [May 5th, 2012]
- Cutting Edge Technology Coming To DMH - May 5th, 2012 [May 5th, 2012]
- This Week in Experimental and Molecular Pathology - May 5th, 2012 [May 5th, 2012]
- Researchers' discovery offers hope for cancer, heart disease miracle drugs - May 7th, 2012 [May 7th, 2012]
- Penn State student Zachary Hostetler from Garnet Valley is being honored as a student marshal - May 7th, 2012 [May 7th, 2012]
- NCKU Student Wins Prestigious Award for Anti-Cancer Research - May 10th, 2012 [May 10th, 2012]
- In-Vitro Diagnostics (IVD) Market (Clinical Chemistry, Immunoassays, Molecular Diagnostics, Hematology Analyzers ... - May 10th, 2012 [May 10th, 2012]
- Pitt team uses genomics to identify a molecular-based treatment for a viral skin cancer - May 10th, 2012 [May 10th, 2012]
- Genomics used to identify a molecular-based treatment for a viral skin cancer - May 10th, 2012 [May 10th, 2012]
- 2 molecular biologists get $500K medical prize - May 13th, 2012 [May 13th, 2012]
- 2 molecular biologists share $500K medical prize - May 13th, 2012 [May 13th, 2012]
- Lab21 Unveils New Molecular Analysis Services at Greenville Site - May 13th, 2012 [May 13th, 2012]
- 2 molecular biologists from NYC to share $500K medical prize for pioneering research on cells - May 13th, 2012 [May 13th, 2012]
- Two Molecular Biologists Get $500K Medical Prize - May 13th, 2012 [May 13th, 2012]
- Pair of molecular biologists receive Albany Medical Center Prize - May 13th, 2012 [May 13th, 2012]
- CNIO scientists successfully test the first gene therapy against aging-associated decline - May 16th, 2012 [May 16th, 2012]
- Cancer Institute of New Jersey Aims to Advance Personalized Cancer Treatments Through 'Precision Medicine' - May 16th, 2012 [May 16th, 2012]