How genetic testing will help personalize your medicine

How genetic testing will help personalize your medicine
How genetic testing will help personalize your medicine

For much of modern medical history, treatment has centered around the average patient. Discovering treatments which work for most people, most of the time has been a necessary starting point. However, treating every patient according to an average is rarely the most effective treatment method and can potentially even cause harm in some cases.

When the U.S air force first designed its planes, it based every measurement of the cockpit — from the shape of the seat, to the height of the windshield, to the distance between seat and pedals — according to the average of dimensions from hundreds of pilots. Nevertheless, unexplainable crashes kept occurring.

A young researcher tasked with studying the conundrum discovered the flaw: no individual is average. By replacing the average-sized designs with new versions that could be adjusted to the individual, the problem was solved. Now we are discovering that the flaw of averages — and the need for personalization — is equally important in medicine.

We now know that certain ethnic groups are more susceptible to genetic conditions and respond differently to treatment. Likewise, women can present with very different symptoms to men for the same disease. Genetic testing moves vastly beyond even these differences — opening up treatment possibilities tailored to each specific individual.

Safer prescription and administration of drugs

Individual genetic makeup can uncover the difference between an effective drug and a severe allergic reaction. The study of how genes affect drug response is known as pharmacogenomics.

Genetic differences can determine which drugs are selected for treatment. One drug, ivacaftor or Kalydeco, is used to treat cystic fibrosis — it’s a first-line treatment, but only for the 5% of CF sufferers who have a specific genetic mutation.

In other cases, genetic testing is used to determine safe dosage levels. Thiopurine drugs are used to treat leukemia but can cause dangerous levels of bone-marrow suppression. The dosage window between effective treatment and toxicity is small. Individuals with a certain TPMT gene mutation are ten times more sensitive and have a ten times smaller window — genetic testing can identify them and protect them from these toxic side-effects.

Advanced cancer treatments

There are over 100 types of cancer and over a third of people will be diagnosed with one of them at some point during their lifetime. As the second biggest killer after heart disease, few people escape its effects — either via themselves or by seeing their loved ones affected.

Cancer is caused by mutations within a cell’s DNA which cause it to grow abnormally and uncontrollably. Some of these genetic mutations are caused by exterior damage — sun and smoking, for example — while some are present at birth. Genetic testing of an individual can evaluate their risk of developing certain types of cancer, but tumours can also be genetically tested to determine their makeup.

One of the first examples of personalized medicine, dating back to the 60s, involves a breast cancer hormone therapy known as tamoxifen. It targets estrogen receptors present on the cancer cells. Some breast cancers do not exhibit these receptors — rendering tamoxifen useless in these cases.

Understanding not only the genetic makeup of the patient, but of the tumour itself, has led to new classifications of tumours and new treatment opportunities. Whereas historically cancers have primarily been classified by the point they originate from on the body — lung, breast, pancreas — classifying them according to certain genomic markers opens up new avenues for effective treatment.

Early risk detection and intervention

Almost all disorders — whether genetic or acquired — are most effectively treated with early intervention. Genetic testing can be performed in utero, at birth and later in life.

Some disorders are easier to test for — those directly caused by a single gene or small number of genes, such as cystic fibrosis, sickle cell anaemia and muscular dystrophy. Where available, early intervention can be started as soon as the diagnosis is made, reducing the severity of the symptoms and improving quality of life.

Other more complex diseases can have dozens of gene variants associated with increased risk — over 90 gene variants have been linked to an increased risk of breast cancer. Genetic testing cannot directly say whether or not an individual will be affected in their lifetime, but high risk individuals can be better informed and prepared.

As modern genomics continues to advance, the progression towards personalized medicine will only accelerate. The potential benefits in terms of treatment efficacy, risk assessment and harm reduction cannot be understated.

The accumulation of this level of personal medical data, however, comes with its own set of challenges. Private genetic information can have significant consequences in the wrong hands — for example, when it comes to health insurance coverage. Patient security from both a technological and legal standpoint needs to be a priority, and here novel technologies such as blockchain can play an important role and create unprecedented value for the precision medicine ecosystem.

Boilerplate:

Shivom combines blockchain, A.I., DNA sequencing & cryptography to enable secure and personalized medicine. The Shivom platform works on principles of collaboration & integrity, allowing people to own, manage and monetize their data. By creating a web-marketplace, a network of genomic counselors, and a not-for-profit drug research unit, Shivom will build a global healthcare ecosystem, reaching even low-income countries where such services have not been previously available.

Ten benefits of genetic testing

Ten benefits of genetic testing
Ten benefits of genetic testing

Advances in genetic analysis and the rise of direct-to-consumer DNA tests have changed the way we think about genetic testing. Now more than ever, patients and consumers can learn about their own genetic material. How can we — both as individuals and as larger communities — benefit from genetic testing?

1. Detect birth defects in utero

Every parent hopes to welcome a healthy child into the world. The nine month gestation period — albeit with ultrasounds and regular doctor checkups — is a nerve-wrecking time for parents to be.

Prenatal genetic testing can identify some genetic disorders in utero, and is recommended for parents carrying recessive genes for conditions and mothers at risk from chromosomal abnormalities. Early identification of genetic disorders allow parents to better prepare for a special needs child or choose to terminate the pregnancy.

2. Identify genetic conditions at birth

The unfortunate reality of many genetic conditions is that they can never be cured, only controlled. However, early intervention is key to improved health outcomes and reducing disorder severity. In the United States, over 95% of babies are tested for a whole range of genetic diseases — about 3000 (out of over 4 million) test positive and can begin early treatment.

3. Guide family planning decisions

Some of the deadliest genetic disorders — cystic fibrosis, Huntington’s disease and Tay-Sachs, among others — are caused by recessive genes. Healthy adults who have never experienced symptoms can nevertheless carry the gene without ever being aware.

When two carriers have a baby, the child has a 25% chance of developing the full disorder. This is a particular risk in insular communities who tend to intermarry — there are genetic testing programs directed towards Ashkenazi Jews and the Amish for this reason. With the results from these tests, carriers can make informed decisions about who to marry and who to have children with.

Source: Jewish Genetic Disease Consortium

4. Reveal risk from genetic factors

When genetic disorders are controlled by a single gene, identification of carriers and affected individuals is relatively simple to test for. Humanity’s deadliest killers — cancer, heart disease, diabetes — are made up of a constellation of risk factors that are still not fully understood.

Advances in genetic testing allow you to know if you are at a greater risk from these diseases later in life, and how severely you may be affected. Additionally, identifying a genetic risk factor in one member of a family can prompt close family members to undergo genetic analysis and evaluate their own levels of risk.

5. Understand family history

The primary purpose of genetic testing has, for years, been medical. Now, people are taking matters into their own hands. Direct-to-consumer ancestry testing has seen meteoric growth — more people analyzed their DNA with such a test in 2017 than in all previous years combined.

The ability to analyze and own your personal genetic data is evidently a tempting proposition. But as companies collect ever larger quantities of DNA, the question of who owns this data and what happens to it after testing is ever present. In June 2018, email addresses and password information associated with over 90 million users of genealogy website MyHeritage were exposed during a hacking incident. Luckily, MyHeritage store DNA data on a separate system protected by extra layers of security.

6. Reach historically underrepresented groups

Historically, medical research has focused on one subset of the population — white males. Non-white ethnicities and women have been underrepresented in initial research as well as pre-clinical and clinical trials. There are known differences between the sexes in symptoms, risk factors and outcomes for a whole host of diseases — cardiovascular disease, stroke and asthma, to name a few.

This narrow focus results in adverse treatment effects and population-specific genetic disorders being overlooked. The availability and reach of direct-to-consumer genetic testing means future medical research has the potential to be far more inclusive and precise.

7. Personalize medical treatment

If one size fits all doesn’t apply to clothes, how could it possibly apply to medicine? Our previous point highlighted how different population groups respond differently to treatment — genetic testing goes even further by personalizing treatment to specific individuals.

Genetic factors can significantly affect the body’s response to drugs — the study of this field is known as pharmacogenomics. For example, Abacavir is a highly effective treatment option for most HIV sufferers, however causes severe side effects for 5–12% of the patients. Patients with the HLA-B*5701 gene variant were found to be most likely to suffer these side effects. By screening for this gene variant, another treatment option could be offered to these patients.

This personalization could even reduce the need for one of the most gruelling treatments of all — chemotherapy. A major international study recently found that some women with early-stage breast cancer could skip chemotherapy altogether, as long as their tumor showed specific genetic markers. Breast cancer tumors with these genetic markers can be treated solely using estrogen blockers.

8. Contribute to drug and treatment research

Millions more people undergoing genetic testing mean a potentially enormous sample pool for genetic research. More data available offers opportunities to identify new genes, better understand genetic conditions and formulate new drugs and treatment options.

Medical genetic testing has strict conduct codes around sample acquisition and informed consent of its subjects. The largest direct-to-consumer genetic tests share sequence data with non-profits and research institutions and other, for-profit parties — the data is used to develop new treatments that can help millions (and make millions). However, the individuals who supply the data do not benefit from these profits and can’t know if their samples have been used.

9. Relief from uncertainty

Knowing that you or your children may be at risk from a genetic condition is a deeply stressful experience. Many people affected report the feeling of “waiting for the other shoe to drop”, especially for conditions where symptoms typically appear late in life.

Undergoing a genetic test and receiving clear information can give great relief from this uncertainty. A negative diagnosis rules out the disease completely, while positive diagnoses can be used to undergo checkups more frequently and take steps for early intervention.

10. Make informed decisions

Knowledge is power. Whether prenatal, in early childhood or as an adult, knowing the level of risk is key towards directing future decisions. A person who undergoes genetic testing and discovers a predisposition towards skin cancer can take greater care to stay out of the sun, while someone predisposed towards Type 2 diabetes can preemptively make healthier diet choices. People with a predisposition to Alzheimer’s disease can slow the onset of symptoms through diet and taking up certain hobbies. Clear information means factors under the patient’s control can be identified and improved.

In an ideal case scenario, genetic testing should take place in conjunction with genomic counseling. The potential psychological effects — feelings of dread or hopelessness — of a poor diagnosis — should not be discounted. For most patients, however, the benefits of early intervention, improved treatment outcomes and increased sense of control far outweigh the negatives.

While the benefits to individuals are mostly positive, the collection of large amounts of genetic data raises questions about privacy, data protection and potential genetic discrimination. Will regulations that protect the individual keep pace with this new technology? That remains to be seen.

Project Shivom Is Now an Associate of Nasdaq listed Genetic Technologies Limited


At Project Shivom, we are constantly aspiring for impeccability in DNA data curation and perfect our own data-oriented requirements, which is why we have partnered with a diversified molecular diagnostic company; the provider of BREVAGenplus®, a first-in-class, clinically validated risk assessment test for sporadic (non-hereditary) breast cancer, Genetic Technologies Limited (NASDAQ: GENE).

This strategic alliance aims to achieve the following:

 From Genetic Data collection to Genetic counseling, we will work with GTG to obtain not only flawless and ethically obtained DNA data for research and development in the field of Genomics, Cancer research, and Precision Medicine
 Enabling the user to obtain a more accurate DNA information and share it with third parties on a pay per use basis
 Empower medical and genomic research with a rock-solid base founded on easily comprehensible DNA Data, flawless analysis, and secure operations
 Using blockchain technologies to further streamline genetic technologies across genomic testing platforms

We are extremely happy to collaborate with GTG and hope to build a remarkable future in the avenues of DNA analysis, Genomic Research, and Medical education and solutions that can be derived eventually.

We will be collaborating with more proficient firms in the future to continue our pursuit of the ethical, efficient, and ever-expanding DNA and Genomic information.