When you visit a clinic or a hospital because of a health problem, the doctor will first ask you about your symptoms: when they started, how they have changed over time, how you are feeling now, and what treatments you have already received. They will also ask about any serious illnesses you have had in the past.
Based on all this information, the doctor will then follow medical guidelines to decide which tests you may need, what should be examined, and what the possible diagnosis could be. Each of these steps is based on previous knowledge gained by studying diseases and how patients respond to different treatments.
Why standard medical approaches are not enough for every patient
However, every patient experiences a disease in their own unique way. A symptom that is typical for a certain condition may not appear in every person. Some patients might have an unusual course of the disease. A treatment that works well for most people may be ineffective for someone else or even cause side effects that make the condition worse.
These differences cannot be fully explained only by what we know about the disease itself; the individual patient needs to be understood and taken into account as well.
Evidence-based medicine and its limitations
Currently, the standard medical approach relies on knowledge gathered from many previous cases, and this approach is known as evidence-based medicine. It assumes that when diseases are studied in large groups of patients, they behave in a similar way: most people respond to the same procedures, and treatments usually lead to predictable results. In other words, disease courses are expected to follow the same general patterns across large patient populations.
What is personalised medicine?
Personalised medicine is an approach that focuses on the individual patient and their unique characteristics in the context of a disease and its treatment. Hippocrates, the father of medicine, famously said that “it is more important to know what sort of person has a disease than to know what sort of disease a person has.”
This idea lies at the heart of personalised medicine: to understand the patient as a whole. This includes factors such as age, sex, weight, ethnicity, psychological and social characteristics, physiological and biochemical traits, environment and, most importantly, the patient’s genome.
Why personalised medicine is especially important for thyroid disorders
Consequently, personalised medicine is especially valuable in treating thyroid dysfunction, a group of conditions that can be complex and highly variable. By taking individual differences into account, personalised medicine can help improve the understanding of risk factors, enhance diagnostic accuracy and support more effective treatment. This approach is important for all patients with thyroid dysfunction, including pregnant women who require additional care and attention.There are two main factors that interact in the development of any disorder: a person’s genes and their environment. Around 70% of the risk for developing autoimmune thyroid disease is linked to genetics. This is why autoimmune diseases often appear repeatedly within the same families.
However, the exact genetic factors that increase the risk of autoimmune disease are still largely unknown. This means that both the external environment (such as exposure to viruses or harmful substances) and the internal environment (such as pregnancy or specific gene changes) also play an important role in triggering the disease in individuals who are genetically predisposed.
Personalised diagnosis in thyroid disorders
Diagnosis cannot rely solely on standard reference ranges. Thyroid hormone levels naturally vary from person to person depending on age, sex, weight, ethnicity, and even the time of day or season of the year.
In addition, it is important to understand each patient’s genetic background to determine whether their predisposition comes from the immune system, the thyroid gland itself, or inherited molecular mechanisms.
Patients also respond differently to environmental influences, so information about lifestyle, psychosocial factors and exposure to toxins can provide valuable insight. Finally, personalised diagnostic approaches can even help predict whether a patient is likely to experience side effects from thyroid medications.
Personalised treatment approaches
Personalised medicine relies on tailoring treatment to each individual patient. For example, in cases of Hashimoto’s thyroiditis or after thyroidectomy, researchers are exploring whether new thyroid tissue could one day be created from stem cells. Small-molecule therapies are being developed to specifically target thyroid autoantibodies.
Thyroid hormone replacement can be adjusted based on a patient’s gastrointestinal absorption, deiodinase activity, hormone metabolism and the way their tissues respond. Some patients may require calcitonin replacement after thyroidectomy, while others – especially those with thyrotoxic heart disease — may need real-time monitoring of blood pressure and heart rhythm.
Personalised medicine during pregnancy
Pregnancy is a sensitive period in a woman’s life, and the body goes through many changes. Because of this, personalised medicine would adjust how often thyroid function is checked depending on the trimester. This is important because problems with the mother’s thyroid function or autoimmunity can influence how the baby’s brain develops. Another aim of personalised medicine is to create new treatments that are safe for pregnant women with thyroid problems and do not harm the developing baby.
Benefits of personalised medicine compared to traditional approaches
Compared with traditional evidence-based medicine, personalised medicine looks at the whole person, not just the disease. It tries to understand all factors that may influence a patient’s health, so that treatment can be tailored as precisely as possible. The goal is to prevent disease whenever possible, choose the best therapy from the start instead of trying different options randomly, reduce unwanted side effects and improve the patient’s overall quality of life. In the end, this approach is more focused on the individual and supports better long-term wellbeing.
Author: Vladimir Gašić
References:
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- Ferrari SM, Ragusa F, Elia G, Paparo SR, Mazzi V, Baldini E, Benvenga S, Antonelli A, Fallahi P. Precision Medicine in Autoimmune Thyroiditis and Hypothyroidism. Front Pharmacol. 2021 Nov 17;12:750380. doi: 10.3389/fphar.2021.750380. PMID: 34867359; PMCID: PMC8635786.
- Galofré JC, Díez JJ, Cooper DS. Thyroid dysfunction in the era of precision medicine. Endocrinol Nutr. 2016 Aug-Sep;63(7):354-63. English, Spanish. doi: 10.1016/j.endonu.2016.04.009. Epub 2016 Jun 3. PMID: 27267315.
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