Why is an accurate diagnosis so important and what role can telomere testing play?

Providing a correct and timely diagnosis can be challenging, especially for rare diseases. In this blog we address some key benefits of an accurate diagnosis for patients and their families. In some conditions, telomere testing may provide information to support this.  

Making an accurate diagnosis can be challenging, particularly for physicians faced with rare diseases that can affect many organ systems in the body. One example of such a condition is dyskeratosis congenita (DC), a telomere biology disorder (TBD).

Diagnosis of DC can be difficult. In part because of its limited prevalence, meaning it may not be the most likely cause for the symptoms. Another difficulty is the wide range of varied symptoms. Lack of physician familiarity can also be a barrier, highlighting the importance of rare disease education and advocacy.

Three critical reasons for an accurate diagnosis

1. Tailored treatment plan

A definitive diagnosis is required in order to define the best treatment approach to achieve the optimal outcome for the patient. It allows physicians to carry out a risk / benefit analysis when several options exist, and make an informed choice about timing for intervention.

These parameters can be very important considerations for healthcare teams and patients, especially when extensive, invasive or expensive treatments are being considered.

Crucially, a conclusive diagnosis also improves the likelihood of an effective treatment plan. One that can act to improve symptoms, or in some cases provide a cure – potentially even saving a life.

For example, in the case of DC, diagnosis can start the process of consideration for a stem cell transplant.

2. Preventive precautions, clinical monitoring and proactive approach to co-morbidities

Many diseases are linked to increased risks of other related conditions, these are called co-morbidities.

Being able to deliver a conclusive diagnosis means that both the individual and their medical team can be aware of risks that may be associated with the disease, its evolution and the co-morbidities that may arise. This in turn can allow for regular monitoring and, in some cases, protective measures can be taken.

For example, a diagnosis of DC could prompt a conversation regarding the importance of not smoking due to heightened risks of lung complications.

3. Psychological benefits

These benefits can be two-fold.

Firstly, there is the advantage of having a conclusive diagnosis and label, to explain symptoms and experiences. This can help people know what to expect and enable them to explain their condition to others. It can also make people feel less isolated, allowing them to find others who have the same condition and who they may be able to relate to.

Secondly, from a practical aspect, a concrete diagnosis allows an individual to conduct targeted research to find out more about their condition. In addition, it can enable them to access benefits (financial, medical etc.) and tailored support. For example, Team Telomere provides support to families worldwide in their battle with DC and related TBDs.

Specifically, in the case of genetic conditions such as DC, it can also be crucial for the individual and their family to understand the heritable nature of the condition. Genetic counselling and guidance can help families with this.

Information is key: telomere testing can support accurate diagnosis

A key stage of enabling accurate and timely diagnosis is providing physicians with all the diagnostic information they need. In some conditions, including DC, that can mean access to telomere length measurements.

Telomere length can be a key indicator for certain diseases – whether they are critically short or excessively long.

At RepeatDx we provide accurate and reliable telomere testing in a timely manner to help support physicians with diagnosis. Often these results are used to support diagnosis of TBDs. You can find out more here.

In a separate blog post, you can find out how the Flow FISH telomere length analysis process works at RepeatDx.