Supervised by: Dr Callum Parr MBBS BSc (Hons). Callum studied Medicine at Imperial College London and secured a place as an Academic Foundation Doctor in the competitive North West London region. He received multiple distinctions for his performance throughout medical school. He intercalated in Biomedical Engineering, also at Imperial College London, and received First Class Honours. He has published work in prestigious journals, including Lancet Respiratory and the BMJ.


Personalised medicine is a form of diagnosis and treatment that specifically targets the needs of specific, individual patients. The treatment is decided on the basis of genetic, biomarker, phenotypic, or psychosocial characteristics. Our improving understanding of genetics (along with human behaviour) in disease and disorders, along with the quick progression of sequencing technology, has thus far helped produce much faster and more accurate diagnoses, and more effective treatment plans2. As of today, personalised medicine is not usually considered a feasible form of diagnosis and treatment by health professionals and the general public alike, mainly due to its complexity and large expense brought with it. This research article examines the integration of this process/treatment into various fields of medicine, why it is priced at such high rates, the viability of such treatment, and the ethics associated with it, with an additional section regarding health equity.


personalised medicine, genome mapping, psychiatry, symptom, diagnosis, biomarkers, forensics, forensic psychiatry, health equity, ethics, medical ethics, gene, gene discrimination, gene patenting, cervical cancer, human papillomavirus.


Genome mapping and its uses

Genome-based personalised medicine has the potential to revolutionise detection and treatment of many diseases through more accurate and pre-emptive diagnoses and analysis of genotypes to better determine risk factors and potential treatments. Human genomes contain over 3 billion base pairs, all with genetic variations from person to person. Testing of these genomes can identify the genetic change known to cause a disease; however, a negative genomic test does not automatically mean a ‘clean bill of health’ (1). 

Through the use of many biomedical technologies and processes, genome sequencing is a powerful tool for both diagnosing diseases and researching them. One such example is the hierarchical shotgun method, which involves randomly sectioning the genome into DNA fragments that are sequenced individually (2). A computer is then used to help identify when the DNA sequence overlaps using the chosen sections to reassemble the fragments in the correct order and restore the genome. This method helps identify genes that code for proteins and establishes a better understanding of how genomes work. Both genome mapping and other forms of genetic testing are powerful tools for combating disease. 

Targeted methods are more efficient for disorders with only a few genetic mutations of interest, such as cystic fibrosis and sickle cell anaemia. There are three types of genetic mutations: base substitutions, deletions, and insertions, all of which can make a person more prone to a disease (3). The most common form of cystic fibrosis is caused by the deletion of one codon in the gene in question, and sickle cell anaemia is caused by a substitution mutation. Some diseases, however, have a far more complicated genetic basis, most notably cancer, which can require up to ten mutations, including those affecting density-dependent inhibition and the p51 gene. Cancer is a disease type for which personalised medicine is becoming increasingly important. Better understanding of the genomic alterations present in tumours can be used to predict tumour response and therefore help determine the best treatment route. This use of genome mapping to determine treatment methods and attain quicker diagnosis is known as personalised medicine.


Personalised Medicine

Alongside genome mapping, personalised medicine uses many other strategies to predict diseases early on, the most common of which is familial medical history. This risk calculation can allow for many pre-emptive measures to be taken, including lifestyle changes and risk-reducing treatments. Personalised medicine can also lead to treatment changes such as targeted therapies. In cancer these analyses are especially important as the variety of treatments largely have adverse effects (nausea, fatigue, low blood cell counts etc.) (4). As genetic variation is used to predict therapy responses to a greater extent, it is easier for doctors to calculate the risks and likelihood of success and communicate them to their patients so they can make an informed decision.


Adolescent Idiopathic Scoliosis (AIS)

Adolescent Idiopathic Scoliosis (AIS) is a common disease affecting about 4% of the global paediatric population (1). The true cause of AIS is not yet known, however it is likely that there is strong evidence of genetic predisposition. Thus, current treatment options for AIS are limited in scope and not very effective. Therefore, the future of AIS treatment lies in the application of personalised medicine in both early diagnosis and personalised treatment. 

The Future of AIS Diagnosis

In diagnosis, exploration of the genes causing AIS using a genome-wide association study (GWAS), which are used to associate genetic variations to diseases, led to the first AIS GWAS, conducted by Sharma et al., suggesting that CHL1, a member of the L1 gene family, might be responsible (2). However, a study done by Qui et al. showed no association between SNPs of CHL1 and AIS (3). These studies will ultimately narrow down the possibilities of genes and SNPs that cause AIS, and early diagnosis is possible by examining the genetic components if AIS is suspected. More specifically, work is also being done to narrow down specific chromosomes involved. Trait loci have been found using gene linkage techniques on the 18q (4) and the 12p (5) chromosomes that could contribute to AIS. After these genetic sequences are discovered, children can be tested to find out their genetic makeup and how it affects their AIS. The GWAS technique and other genome-mapping techniques will also aid in the personalisation of treatment. 

Personalising a treatment plan for AIS

The next step is to personalise a treatment plan for the patient. Bracing is an example of a treatment used for AIS, however not all patients respond to bracing (6). Surgery is another example of a treatment option, but it has its risks as well. Because patients will not always respond to treatments, it is necessary to find a specific course of treatment for each individual patient, which may involve more than one treatment modality. This is why early diagnosis and genome mapping are essential. If treatment options can be narrowed down and selected according to the patient’s genetics, they will be more effective, resulting in better prognoses. Combining treatments may prove to be most effective, and early diagnosis and personalisation based on genetics may present the highest likelihood of a positive patient response to treatment. An example of a future treatment plan could include both surgery and bracing at a specific age or stage of disease progression, after having identified that this patient would be better suited to having these treatments in this order. Overall, taking a more personalised approach with genetic techniques could provide the most positive outcome when faced with AIS diagnosis. 



In psychiatry, the integration of personalised medicine into the field is relatively new as compared to other fields, such as psychotherapy, which has always displayed a somewhat personalised approach (1, 2).

Symptom-Based Diagnosis

It is important to note that many psychiatric disorders are not actually diseases, but are better classified as syndromes, many of which have been identified and diagnosed via observations and visible symptoms seen in behaviour and response to certain treatment (2). The idea of early detection of such disorders via earlier planning and response to such observations in a specific patient taking into account daily habits and medical history has, over time, become a well-researched aspect of psychology and psychiatry. This research could allow for the use of secondary preventative therapy for certain patients. For example, ninety percent of patients that develop psychiatric disorders often have a three to five year risk period wherein they experience a variety of relatively mild psychotic symptoms and short, irregular psychotic episodes (3).

The issue with this method is that it is not always entirely reliable. In fact, it was seen that over two years only twenty-nine percent of patients classified as “high-risk” developed a psychiatric disorder (3). This method has allowed a seventy-one percent false positive out of the total cases taken into account (3). While reasons behind this inaccuracy could be further speculated, the bottom line is that symptom-based diagnosis, despite the years of research behind it and large sample pools taken into consideration, is not an accurate method, and has yet to provide the solid determination of the actual risk of such diseases (3).

The Use of Biomarkers in Diagnosis

Rather than symptom-based diagnosis, more recent research has spoken of the use of biomarkers for the early detection of psychiatric disorders, which may prove more reliable than the current approach. Such research includes the use of electroencephalography (EEG) which is the recording of the brain activity of patients, typically done by placing electrodes along the patient’s scalp; the study of neurocognitive status, which comprises of the cognitive processes or functioning understood in relation to the specific neural mechanisms by which they occur in the brain and any impairment of these mechanisms (4); and/or the use of structural magnetic resonance imaging (MRI) studies in patients with schizophrenia, schizoaffective disorder, bipolar disorder, and certain dissociative disorders as well (3).

In terms of EEG, different combinations and certain models yielded interesting results, including the patients’ neurological response to stimuli. Using specific models, professionals are more accurately able to determine risk groups for certain disorders. However, the differentiation of risk has not yet been achieved, which would allow for better prevention planning.

The use of MRI also comes in the form of different combinations and certain models to produce increasingly accurate results, and by collecting images of the brains of pre-afflicted patients at different stages of their respective disorders. By collating this information, professionals are able to determine potential brain-structural markers of different syndromes for the early diagnosis of disorders. However, it is important to note that these markers may be affected by or could be a result of hospitalisation, long-term antipsychotic medication, social deprivation, and drug use (3).

These are only a few suggested and tested methods for early diagnosis via biomarkers. So far, they have proven themselves more accurate than previous methods – although they are not entirely perfect either.

The Effect on the Lives of Patients

With more research and time, this could improve the lives of patients with psychiatric disorders by allowing for earlier and more effective secondary preventative treatment, subsequently reducing the duration of hospitalisation required, and thus, the socioeconomic costs of bearing such a disorder (3).

However, there will always be a risk of form of genetic discrimination or misinterpretation of information, that may result in incorrect treatment. Additionally, personalised medicine has been found to be unaffordable to many patients, as well as difficult to access. Such difficulties and obstacles will need to be eased in order for patients to be able to look into personalised medicine without worrying about expense or being subject to flawed treatment (5).


Forensic Psychiatry

Incarceration and mental illness go hand in hand; people with severe mental illness in the United States are three times more likely to be incarcerated than in a mental health facility. (1). The criminal justice system must utilise the best forensic psychiatry in jails and prisons. The best is Personalised Medicine: Diagnosing patients based on their genetic variations, and epigenetic changes can help prisons determine whether or not the patient is a risk to themselves and others and the best way to manage the risk they may pose to themselves or others is unique to every individual. These factors help the judge determine their criminal status and if the individual will be released or detained.  

Investigating three factors (risk assessment, risk management, and offence paralleling behaviour) and incorporating personalised medicine in each of them would determine the most accurate diagnosis and steps for their incarceration. 

Risk Assessment and Management

Risk assessment is determining through many tests and medical evaluations whether or not the convicted criminal is likely to re-offend. Risk assessment in the criminal justice system often lacks accurate assessment tools to evaluate individuals. These assessment tools often lack relevance and use biased, unreliable, or inaccurate data to determine the individual’s incarceration status. For instance, more than half of people labelled at risk of reoffending are incorrectly assessed and do not go on to do so (2). Using personalised medicine, advanced technologies, and Offence Paralleling Behaviour, we can reduce the number of individuals incorrectly assessed each year. 

Offence Paralleling Behaviours

Offence Paralleling Behaviour looks at the science behind our overt behaviour. Why we do the things we do, specifically upon the criminal act(s) committed through functional analytic psychotherapy and cognitive therapy, OPB breaks down the criminal acts committed, germinating their criminal status (3). It looks at their behaviour at the time of the offence and the sequence of events that led up to the crime committed. Using an example in Offence Paralleling Behaviour: A Case Formulation Approach to Offender Assessment and Intervention, edited by Micheal Daffern, Lawrence Jones, and John Shine, child sex offender is rejected by their significant other, this causes them to become not only depressed but also angry. They seek out children to sexually abuse. When detained, they experience rejection from a significant other, causing them to want to offend children again sexually. They watch television series with children and masturbate. Different circumstances must be factored in when determining if the offender will reoffend or is at risk of ​​Recidivism. Experts look at the motive behind the crime already committed or the sequence of events. In this example, the child sex offender seems susceptible to re-offend due to the pattern the individual exhibits of being rejected and committing horrible offences (4).


Using personalised medicine strategies like looking at their genetic variations and epigenetic changes and the OPB science, you can ensure an accurate risk assessment evaluation and that the incarcerated are not a risk to themselves and others, and develop their risk management accordingly.   


Forensic Psychiatry

Health equity is when a patient’s full health potential is recognised, meaning there would be few, if any, health system inequalities and systematic differences in health outcomes based on attributes such as race. 

A plethora of diseases exists in today’s world. However, not all of these diseases are the same, meaning each disease has different effects on each person. These areas broaden when these diseases can only be diagnosed through physical appearance. Some conditions look different depending on certain physical attributes such as skin colour, which is why they can be so troublesome. Examples of these diseases include Psoriasis (1), Melanoma (2), Ascites (3), and Jaundice (4). Each of these diseases have physical symptoms that are crucial for diagnosis, which can be hindered by lack of diverse examples in medical training. Health equity begins to show its crucial importance when a patient is misdiagnosed because the doctor could not recognise the disease they had.

The issue of health equity can be identified in medical school curricula, and other resources like Google Images. There is a lack of diversity in the pictures that medical students are shown, which makes it harder for them to learn to treat patients effectively. If a doctor has to treat something they cannot recognise, the patient has a much smaller chance of receiving adequate medical care. The issue is a failure in representation. Racially-based health inequity is, in short, a result of negligence (5). The issue could be easily solved if it was a widely recognised problem, so the question becomes why is more not done? By examining how each field of clinical research currently approaches diversity and inclusion, we can address the issue of inequity and create a higher standard in medicine.


Psoriasis is a skin disease that causes a rash with itchy, scaly patches, most commonly on the knees, elbows, lower back, and scalp. Psoriasis is a chronic disease with no known cure. Psoriasis can be associated with pain, and disruption to sleep and concentration (1). The symptoms are physical but appear differently depending on skin tone. These rashes aren’t as noticeable on darker skin tones and are harder to spot unless you know what you’re looking for. 

Melanoma is a serious form of skin cancer that begins in cells known as melanocytes. Melanoma is less common than basal cell carcinoma (BCC) and squamous cell carcinoma (SCC), but has a higher risk of metastasing to other tissues and organs if not diagnosed and treated at an early stage. This makes early recognition and diagnosis crucial in melanoma (2). If it’s missed by a doctor the results could be devastating.

Another example is Ascites, a condition in which fluid collects in spaces within your abdomen. This can reduce mobility, and can also predispose to infection. Fluid can also move into the chest and surround the lungs (3). The earliest symptoms are physical. The difficulty with Ascites is the skin begins to turn yellow in lighter skin tones. This occurs in its earlier stages. In darker skin tones this is hardly noticeable, which is why it can easily be misdiagnosed if it isn’t suspected.

Jaundice is a condition where the skin, whites of the eyes, and mucous membranes turn yellow because of high levels of bilirubin, a yellow-orange bile pigment. Jaundice has many causes, including hepatitis, gallstones, and tumours (4). In people of lighter skin tones, the skin will turn pale and their fingernails will turn yellow. In darker skin tones this is not as visible. It is not until the later stages that the whites of the eyes turn yellow, making it harder to see until the disease is more severe in people who have darker skin.

Problem and Solution

In the U.S. twelve million people are misdiagnosed per year. This is a catastrophic number that must be addressed (6). Researchers estimate at least half of misdiagnoses to be physically harmful, and even those which don’t have physical health repercussions can easily bring psychological harm due to patients feeling unheard or misunderstood by the doctor treating them (6). It is important to recognise these patterns and trends and fix the issue before it gets worse. This can be achieved by diversifying photo databases. By taking more photos of diverse patients with these diseases, we can remove the racial barriers to adequate healthcare caused by the photos collected by universities and colleges. In doing so this information can be easily transferred to Google and other search engines. By communicating and sharing information, this knowledge would spread to where it is needed most. By following these plans of action, this issue can be eradicated over time. 

Personalised Medicine

The end goal of health equity is to improve personalised medicine. By enhancing a doctor’s ability to diagnose a patient we gain better personalised medical treatment for everyone. Not only will the survival rate from misdiagnosis increase, but the number of misdiagnoses themselves will become less and less prominent. Patient-doctor relationships should be built around trust, which is why it’s that much more important to get these diagnoses correct. By addressing this problem at the source, we can obtain a better health care system for all individuals. 



As with any new medical treatment, personalised medicine has risks, fears, and ethical dilemmas. These affect both the public and the healthcare industry as concerns are raised over ethical issues such as gene discrimination and gene patenting.

Gene Discrimination

While the idea of genetic testing is becoming more important, the fear surrounding genetic discrimination is holding back the public from accepting the idea. Genetic discrimination is the discrepancy in the treatment of healthy individuals or their relatives based on their genetic characteristics (1). While there is little evidence to prove that genetic discrimination has occurred, people fear the potential it has to influence their lifestyle choices. The main concern surrounds insurance contexts and how genetic results and history can impact their applications. Insurance applicants are required to provide relevant medical information with full disclosure to any insurance company. Individuals believe that this may risk them becoming uninsurable due to their genetic history, which could impact their chance of getting healthcare in the future. This affects people’s emotions surrounding genetic testing, due to the fear it may lead to a ‘genetic underclass’. The unknown repercussions of genetic testing lead to the disruption of healthcare delivery. In order to prevent this, patients sometimes refuse genetic testing that might benefit their health, in order to keep genetic information out of their medical records so employers or insurers cannot access them. Laws have been passed to help protect individuals’ rights. For example, The Council of Europe’s ‘Oviedo Convention of Human Rights and Biomedicine’ has prohibited any form of discrimination using genetic history against a person (2). The Genetic Information Non-Discrimination Act was signed in the United States to protect people against discrimination for health insurance and employment (2). Therefore, once people have become educated about the laws surrounding genetic discrimination, the process of genetic testing can become more trustworthy in the eyes of the general population. 

Gene Patenting

As genetic engineering and gene therapy techniques have become more widely used in the medical field, there has been a similar rise in the potential earnings of such treatments, not only with respect to global health but monetary gain. This potential has given rise to several ethical dilemmas, one of the most controversial being gene patenting – the act of obtaining exclusive rights to a specific DNA sequence (3). This patent can be given to organisations, corporations, or even individual people, all of whom will have the right to use it as they deem fit with respect to treatment of disease and research (3). Those in favour of gene patenting often argue that it encourages companies to invest more funds in genetic research, or that it is necessary because the money the patents earn is needed to fund more research. Many however, agree that gene patenting is unethical because it deprives people of access to genetic testing and increases treatment costs. One example of this is Myriad’s BRCA1 and BRCA2 gene patents. BRCA1 and BRCA2 are two tumour suppressor genes, and mutations in them can indicate a predisposition to breast cancer. Women with these genes can take steps to lower their risk of breast cancer through methods such as medications and breast removal surgeries (4). Myriad was the first company to discover these genes and quickly patented them. These patents gave Myriad Genetics exclusive rights to isolate these genes and create BRCA cDNA and outlined them as the only company allowed to test for the BRCA1 and 2 genes, a procedure for which they charge between US$3,000 and US$4,000 (4). These rights excluded many from being able to benefit from the new discovery either because they could not afford the cost of the test or they were not in an area where they could easily get to a Myriad Genetics testing site. 

The debate surrounding these dilemmas has grown beyond medical professionals and scientists and into courtrooms. The 2013 Myriad Genetics case, one of the first on gene patenting, made its way to the United States Supreme Court. In a unanimous decision the court declared that while cDNA was patentable, naturally occurring DNA was a part of nature, not an invention, and therefore could not be patented (4). Once the Myriad Genetics patents were no longer an object of concern, many companies began testing for the BRCA 1 and 2 genes for much lower prices, making the testing far more obtainable and saving countless lives. This ruling raises many questions for the future. Though the natural genes were not patented, the cDNA patent was successful, and the ability to patent cDNA risks companies’ and research teams’ abilities to explore new angles concerning disease control and prevention and personalised medicine, all because someone else got to the courtroom first. This poses not only a threat to further medical innovations and research, but to the companies that fund them, because research projects may need to be shut down after large amounts of time and money have already been put into them in response to new cDNA patents.


With the process of developing a new treatment, limitations arise that can affect the efficacy and feasibility of the treatment. Some of the main limitations that are impacting the delivery of personalised medicine are the cost for development and trials, and the time it takes to conduct genetic testing. 

Trials and Costs

One of the biggest limitations of personalised medicine is the extensive amount of data it requires. In order to be able to study how genetics affect the treatment of different diseases there has to be extensive and reliable data on how a plethora of genetic disparities affect equally large amounts of diseases and their various treatments. Obtaining all of this data and compiling it into a format that is easily usable for quick treatment decisions would take a lot of time and money. There is also the issue of finding enough people for both this process and clinical trials. As more new medicines are being developed to fight specific genetic variations of diseases, rarer versions will be tackled. This will make it harder to find enough people to fill the trials necessary to get the drugs or treatments approved. Phase three trials usually require several hundred people, if not a few thousand, but some genetic variations of diseases are rare enough that researchers may have trouble reaching that number, or, in some cases, even the phase one trial requirements of 20-100 people. As personalised medicine becomes more widely used, diseases will become much more treatable, but the accessibility of this treatment will be limited by cost and the rarity of the condition.

Time for Genetic Testing

Another limitation personalised medicine poses is the time it takes for genetic testing to occur and to produce results. While genetic testing is becoming more normalised in healthcare, it is not as quick as other tests (e.g., taking blood samples). This is because a genetic test has to focus on a specific gene for each individual. It is estimated that humans have 20,000-25,000 genes that have many parts called introns and exons, which must be treated differently as the DNA is prepared for analysis (1). A specialist must make a clinical diagnosis to decide which genes are most likely to come up with results, based on symptoms being displayed. If there are no findings from the first genetic test, doctors will move on to other genes until they find the correct gene. This is the reason genetic testing can take up to several months before a diagnosis of a genetic condition is reached or information about mutations that may cause diseases or illnesses is garnered. This can impact how doctors provide treatment as it can drag out the process and turn people away from genetic testing. 



As evidenced above, personalised medicine has a plethora of applications, using newfound gene mapping techniques to better diagnose and treat a variety of diseases. Through its various uses, great progress has been made with regards to scoliosis, cervical cancer and psychiatry, and as a result, personalised medicine has improved the quality of life for countless individuals.

Despite these successes, however, steps must still be taken in order to better health equity and uphold ethical standards concerning issues such as genetic discrimination and gene patenting, and more research must be undertaken if this trend is to continue. Though there are some current concerns with personalised medicine, it is nonetheless a powerful tool to help combat disease and possibly eradicate it in the future.




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Forensic psychiatry

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Health Equity

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