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Welcome to MARI’s Blog Page! Here you will find articles posted by members of MARI concerning topics including but not limited to: MARI’s goals of better classifying “Misdiagnosis,” “Error in Treatment,” “Malpractice,” overall errors happening in the healthcare and medical fields, and reflections from undergraduate students regarding their experience in projects such as MARI Ref and chapter writing.

 

 

 

 

 

Diagnostic Errors in Medicine: A Preventable Harm

by Priyadharshini Ramakrishnan

 

A diagnostic error emerges when a diagnosis is missed, inappropriately delayed, or wrong. 

According to the World Health Organisation, a diagnostic error refers not only to inappropriate and misidentified conditions, but also to missed and delayed diagnosis that potentially affects prognosis. It is not uncommon to assume that diagnostic errors are a result of poor judgement of the physician. However, a number of pitfalls within the healthcare system also contribute to the increasing number of preventable diagnostic errors. 

 

The World Health Organisation Report on Diagnostic Errors: Technical Series on Safer Primary Care published in 2016, addresses this issue with an outcome-based approach. Access to high quality primary healthcare, availability of healthcare professionals and specialists, multidisciplinary care, availability of diagnostic tests, effective communication, care coordination, follow-up, affordability, health informatics resources and culture can contribute to misdiagnosed cases in healthcare settings across developed and developing countries. From a physician’s perspective, continuous education, clinical experience, comprehensive care and cognitive issues are more likely to influence accurate diagnosis.

 

Interventions to reduce diagnostic errors should focus not only on improving the knowledge and skill of healthcare personnel, but should also involve effective patient engagement and communication. Wielding the advances in information technology, expanding telemedicine services and point of care testing can play a key role in addressing the gaps in the healthcare system to curtail delayed diagnosis. The role of feedback in improving diagnostic decisions can never be undermined. More focus should be given to refining and calibrating diagnostic skills of physicians through cognitive feedback learning.

 

Nevertheless, effort to address the diagnostic errors is not an “one-size-fits-all” approach. Focus should be on identifying the root cause of diagnostic errors. Of many areas, it should also involve addressing the gaps in education, clinical training, facilities and the primary health care system.

 

Reference:

Diagnostic Errors: Technical Series on Safer Primary Care. Geneva: World Health Organization; 2016.

 

 

All Blood Types to be Transformed into Universal Donor Blood

 

By Yasmin Bozorgi

Researchers in Canadian Universities have come up with a compelling discovery that could potentially turn any blood type into the universal blood type O negative. Using specialized enzymes found in the human gut, lead researcher, Stephan Withers, claims that his technique will change blood types A, B, and AB into O (Glover, 2019). Sugars similar in structure to blood antigens that types A, B, and AB exhibit have been found in the mucosal lining in the human gut (Ubelacker, 2018). Since O negative blood lacks these certain types of sugars, an enzyme was needed in order to cleave off those present in A, B, and AB blood types to turn red blood cells into O (Matthews, 2019). After many sample tests of DNA done on an overwhelming amount of microorganisms (Ubelacker, 2018), the enzyme that Withers has found is capable of not only cleaving the subtypes, but also doing so efficiently – triggering a faster response (Matthews, 2019). 

 

 Stephan Withers highlights the fact that the particular antigens that A, B, and AB blood are associated with have negative effects when introduced to an unfamiliar body, making O blood extremely vital in life or death situations due to its lack of antigens (Ubelacker, 2018). O blood is extremely crucial for emergency situations in hospitals. Traumas that are brought into the ER have a life or death nature in which finding the individual’s blood type is not the main priority. Situations like this entail using universal blood as a means to save time. Breakthroughs similar to that of Withers’ will revolutionize emergencies involving devastating traumas and sheds a new light of hope for the families and the victims to a trauma. 

 

The enzyme was secreted from material in faecal matter (Britten, 2018). Moving forward, Withers will focus on testing the necessary safety precautions associated with making this claim a reality. This includes using the “transformed” blood to test immune responses on other blood samples (Matthews, 2019). Withers claims that the most important thing is to be certain that this new technique does not affect the red blood cells in any other way that could be detrimental to its function (Ubelacker, 2018). Additionally, Withers and other researchers on this unique case will apply for a patent in order to study this enzyme and further the technique for clinical work on a larger scale (Britten, 2018). If all goes as planned, blood types will be transforming into universal blood in approximately 5-10 years (Britten, 2018).

 

Bibliography 

 

Scientists make breakthrough in creating universal blood type. (n.d.). Retrieved January 27, 2020, from https://www.lightsource.ca/news/details/scientists_make_breakthrough_in_creating_universal_blood_type.html

 

Glover, B. (2019, June 13). Blood Type Switcheroo a Potential Game Changer for Blood Donation – Barrie 360Barrie 360. Barrie 360. https://barrie360.com/blood-type-switcheroo-a-potential-game-changer-for-blood-donation/

 

Gut enzymes may be key to converting any type of donor blood to universal type O, Canadian researchers say. (n.d.). Retrieved January 27, 2020, from https://www.theglobeandmail.com/life/article-gut-enzymes-may-be-key-to-converting-any-type-of-donor-blood-to/

 

Aug 22, L. B. · C. N. · P., August 22, 2018 6:56 AM PT | Last Updated:, & 2018. (2018, August 22). UBC researchers transform blood types using human gut enzyme | CBC News. CBC. https://www.cbc.ca/news/canada/british-columbia/blood-type-change-1.4794141

 

 

CRISPR: A Tool for Genomic Advancement or a Weapon for Manipulation?

 

By: Toktam Movassagh

January 2020

Have you ever thought about what it would be like to design a human and have it come to life? Maybe pick if your child is tall or short, if it has brown eyes or blue eyes, or better yet, prevent your child from inheriting a genetic disease such as sickle cell anemia or genetic forms of deafness. Well before we get there, first we have to understand the human genome and what it entails. 

When Clustered Regularly Interspaced Short Palindromic Repeat (CRISPR) sequences were first detected by Yoshizumi Ishino in 1987, they were just unusual, repetitive sequences of DNA initially found in Escherichia coli and later in various other bacteria and archaea1. However, the subsequent discovery of CRISPR-associated genes (Cas) and the role of their proteins (Cas proteins) alongside CRISPRs to protect prokaryotic cells demonstrated their value. 

To understand CRISPR’s function, a brief overview of genetic function is needed. DNA and RNA are molecules that store genetic information for all living organisms. They are essential for life on Earth because they act as an instruction manual to create proteins which directly or indirectly carry out processes necessary for function. Changes in the sequence of DNA in humans can change the function of the protein, and thus change certain aspects about an individual. These changes can include deleting units of DNA, altering units of DNA or inserting new units into the DNA sequence. CRISPR is able to take advantage of this system to alter the DNA sequence, thus the protein produced would then be different and eventually lead to a phenotypic difference in the individual.  

Once paired, the CRISPR-Cas system binds to a target gene within a certain part of the genome and through the activity of a nuclease within the system, it can cleave the target gene and separate parts of the genome. These separated parts can then be edited in a multitude of ways which are commonly practiced in genomics (insertion of a desired gene, or deletion of target gene)1. The applications of this tool are nearly endless, one of its uses can be to rid unborn children of any heritable/genetic disorders which may plague them later on in life, and increasing the length & quality of their lives. 

On the other hand, many of those who are critical of the genome-editing tool are worried that it may stray past its many beneficial applications and instead be used to “design one’s own children”. As our knowledge regarding the human genome increases and we learn more about ways to alter the outcomes of traditional zygote incubation (and subsequent childbirth), many people may choose to decide their desired features in their children and alter the course of nature. Parents may decide for their child to have blue or green eyes when that would not have previously been naturally possible, and they may roughly decide their child’s height, hair color and length, and so on. This would clearly be a history-defining ability for humans of our lifetime, and so many people fear that it will be manipulated. With the recent sentencing of the scientist behind the world’s first genome-edited human babies (He Jiankui), the questions regarding the ethics of CRISPR are ever-increasing. Which side are you on?

 

 

References:

1– Ishino, Y., Krupovic, M., & Forterre, P. (2018). History of CRISPR-Cas from Encounter with a Mysterious Repeated Sequence to Genome Editing Technology. Journal of Bacteriology, 200(7). https://doi.org/10.1128/JB.00580-17

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Genomic Medicine: Specialized Care Just for You

By Parsa Tabassi

Every person is unique, and what makes up each person in their DNA is distinctive to each individual. So when people are seeking medical care, why shouldn’t the medicinal help given to each person be personalized to their needs and genetic individuality? 

 

Through the many years of research and the immense advancements in the fields of genetics and pathology, the link between many medical disorders and segments within the human genome is becoming increasingly clear. Although not all-encompassing, a significant number of heritable medical disorders and diseases (such as neurological disabilities, heart diseases, diabetes, etc.) have been proven to have a connection to specific gene sequences within the human genome through a multitude of factors1. As such, a patient’s genetic information is crucial in the diagnosis/prognosis of these disorders, as genetically-linked disorders and diseases are often remarkably difficult to treat and must often be managed. However, the rapidly advancing field of genomic medicine is providing medical practitioners a potentially-valuable approach to preventing the development of genetically-linked disorders. 

 

Often considered to be a subsection of precision medicine (using genetic, environmental, and lifestyle considerations to improve an individual’s diagnosis)2, genomic medicine is the use of an individual’s genetic information in combination to their other background documentation as a part of patient care to specify the medicinal care necessary for each case. Genomic medicine is at the forefront of advancement in the practises of pharmacology, oncology, and overall individual diagnosis. Within fields such as pharmacogenomics, a patient’s genetic information is used to decide whether or not a certain treatment is going to be effective for the patient. Among its many functions, genomic medicine can also be used to confirm diagnosis or properly diagnose diseases or illnesses whose symptoms would’ve formerly been misdiagnosed as another with similar presentation. Many bacterial infections share common symptoms among each other, which may lead to a very virulent infection being mistaken for a common one. For instance, a large number of meningoencephalitis cases are not successfully diagnosed, as it can be caused by numerous pathogens4. Genomic medicine has been successfully used to diagnose such infections, and has also been effective in identifying the correct treatment, all based on a patient’s genome 1,4

 

Although genomic medicine has very beneficial applications, there are also many ethical/social implications which must be considered and which present one of the biggest obstacles to the field’s advancement. For instance, the application of gene therapy (insertion/deletion of patient genes) using gene-editing tools such as CRISPR-Cas systems is highly controversial and its implementation in humans is either banned or highly-contested in many countries3. Genetic sequencing is also quite expensive, and could be too costly for public use in current times. However, the captivating and emerging concept of personalized medical care is still rising, so the question that remains is: is this a field to invest in for the future, or will it cause more harm than good?

 

 

January 2020

 

References:

 

https://www.genome.gov/health/Genomics-and-Medicine

 

https://ghr.nlm.nih.gov/primer/precisionmedicine/definition

 

3   https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6579593/

 

4   https://www.nejm.org/doi/full/10.1056/NEJMoa1401268#t=article

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