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Top list of patient signs for doctors to use DNA testing

Top list of patient signs for doctors to use DNA testing

09/06/2021
Posted by:

Dr.M.Raszek


This post is to inform doctors who are starting to realize the value of medical DNA testing and to inform them about the best indications that DNA testing should be strongly considered. DNA tests are selected for patients as a possibility to obtain a clearer clinical picture.

This post specifically targets doctors interested in taking advantage of this readily expanding area in medical technology. Of course, it is Merogenomics’ sincere desire to see the broad utility of medical DNA testing adopted by all doctors, not just specialists, as we believe it will be family physicians and general practitioners that will ultimately be the drivers of this ongoing medical revolution enabled by the succinct analysis of patients’ DNA. Specialists and designated medical genetics centers are too limited by their narrow and specialized scope to investigate the general population when trying to identify those patients that could benefit most from DNA sequencing technologies. Until there is a broader adoption of clinical use among regular doctors, the promise of precision medicine offered by DNA testing will remain limited.

Merogenomics helps clinics get started with medical DNA testing. What we are finding is that the doctors we talk to are struggling with exactly how DNA testing can be properly adapted to their clinical practice with their limited exposure to medical genomics. One solution Merogenomics offers is a set of criteria regarding patient indications that would almost automatically direct doctors into considering DNA testing (or at very least indicate that a deeper investigation of the patient’s medical history should be performed to determine the value of DNA testing).

These patient criteria are not exhaustive or listed by significance but Merogenomics hopes they serve as an excellent starting point for doctors wanting to learn more about how to utilize medical DNA testing in their clinic. Then if you are a clinician interested in adopting the use of medical DNA testing in your practice, please consider contacting Merogenomics for further assistance as we can professionally guide you from the set-up (with the best relevant clinical DNA testing choices) through to any supporting services or follow-up questions you may require.

 

Cancer

Cancer is a perfect example of an area of medical specialization that should immediately prompt an informed patient/doctor investigation to determine the value of DNA testing and how it may be applicable. This is because cancer DNA testing has very broad applications that often bring significant identifiable benefits to patients. This is not only with regards to current cancer patients and cancer survivors but also can include the unaffected family members from families with a cancer history. DNA testing can be vital to everyone affected by cancer.

Available DNA testing options to consider for this group of symptomatic patients.

Available DNA testing options to consider for this group of asymptomatic patients.

 

Diagnosis through a process of elimination

Not being able to directly diagnose a condition with a specific test but instead coming to a conclusion of sorts by eliminating other conditions can obviously leave a certain level of uncertainty with regards to whether the final conclusion is correct. DNA testing often helps by deriving crucial, pertinent genomic information that may tie diverse clinical symptoms directly to a specific condition.

Available DNA testing options to consider for this group of patients.

 

Early age onset

Early onset (prior to age of 50) of a condition that is either typically observed in older ages, or is severe in its expression (whether seen in later age groups or not), is an automatic red flag to suspect some heritable genetic involvement. For example, cancer onset at a young age should always be suspected of being due to a genetic, heritable predisposition.

Available DNA testing options to consider for this group of patients that are not cancer related. For cancer patients, see above.

 

Family history of symptoms of clinical significance

If a condition with related symptoms appears in a family history across multiple generations, this could signify a genetic predisposition. Alternatively, multiple family members could similarly be affected in the same generation. These types of family history should always be considered as good starting points to discussing and considering DNA testing to perhaps find a heritable component underpinning the specific medical condition. This can also be a precautionary step if patients are asymptomatic of their family’s condition but choose to screen themselves with DNA testing.

Available DNA testing options to consider for this group of patients.

 

Family members tested positive with DNA testing

This is another automatic consideration, if someone in the family has already tested positive with a DNA based technology, as depending on what type of genetic results have been obtained by the affected family member, it could automatically mean that other family members could also be affected by the same genetic issue and could benefit from such identification.

Available DNA testing options to consider for this group of patients.

 

Intellectual disability

Intellectual disability is a broad symptom category that can be an outcome of many different conditions, including a very broad array of genetic possibilities. It can be exceedingly difficult to identify a specific condition underpinning the intellectual disability and so genetic testing can be extremely useful, especially since a correct diagnosis can influence how the affected patient should be managed. Autism associated with intellectual disability for example, should always be tested for genetic information. Obtaining such genetic information can help with proper management and to clearly define risks of additional health problems that could be associated with that specific autistic condition. There is also mounting evidence that early behavioural intervention in autistic children can improve a child’s cognitive, language and adaptive skills.

Available DNA testing options to consider for this group of patients.

 

Mental health

While current genetic testing to diagnose specific mental health conditions is not applicable yet (although highly possible in the future with polygenic risk scores), it is during the treatment of mental health conditions that the important benefits of DNA testing should be strongly explored and considered. Pharmacogenetic testing enables the personalized use of medications by helping to select the most effective medications and the correct dosages without trial-and-error prescriptions. This is especially important as mental health patients are at the highest risk of needing to switch from one medication to another and further underscored by the fact the most frequent pharmacogenetic warnings among Merogenomics’ clients come from psychiatric drugs.

Available DNA testing option to consider for this group of patients.

 

Multiple comorbidities prior to old age

Showing multiple organ systems affected in a young patient could be a sign of genetic mutation with broad impact.

Available DNA testing options to consider for this group of patients.

 

Multiple miscarriages

A history of multiple miscarriages could be a symptom of a genetic issue. Having a chromosomal imbalance due to extra and/or missing genetic material in a genome can lead to recurring miscarriages.

Available DNA testing option to consider for this group of patients.

 

No diagnosis yet

Another example of the powerful use of DNA sequencing, is when a patient cannot obtain a diagnosis through the standard medical approaches. This could be due to the complexity of the symptoms while trying to effectively identify which testing modality to use, or simply because no available or obvious test exists to provide useful information. In such instances, DNA testing, such as comprehensive genome sequencing, can yield information of value in a very high number of patients thus ending their diagnostic odyssey.

Available DNA testing options to consider for this group of patients.

 

Pregnancy

All pregnant women should be informed of the non-invasive prenatal screening option (NIPS, also known as NIPT for non-invasive prenatal testing). NIPS is one of the most accurate tests for finding chromosomal imbalances, and exceeds the quality currently delivered by standard pregnancy blood tests. The primary advantage to consider is greater safety as NIPS reduces the need for invasive follow up procedures. For this reason, every pregnant woman should be informed of this option.

Available DNA testing option to consider for this group of patients.

 

Unusual patient body features

Dysmorphic features, especially facial features, could be a result of an undiagnosed genetic condition, and DNA mutations could be a common cause of such physiological symptoms.

Available DNA testing options to consider for this group of patients.

 

Very rare symptoms

Related to the above, an observation of very unusual or highly uncommon symptoms should be immediately suspected of potentially being caused by a potentially rare genetic condition.

Available DNA testing options to consider for this group of patients.

 

Young death in the family

Death at a young age due to a medical condition should always be suspected as a possible outcome of DNA mutations if environmental causes have been ruled out. Related family members could consider genetic screening.

Available DNA testing options to consider for this group of patients.

 

Navigating through the exciting but complicated medical advances in genetic DNA testing can seem daunting. Merogenomics hopes this important list of patient indications can be a valuable tool for doctors for recognizing those starting points about when to consider the enormous benefits of DNA testing to patients.

What comes next? Some of these criteria might have easier subsequent method of DNA test selection than others. Proper patient medical information assessment for some of the above stated groups might still be a challenge to a doctor to come to a definitive conclusion whether DNA testing could provide results of significant value to patient medical management by the doctor. Knowing how to navigate through such additional investigation could require significant build up of experience. Luckily doctors have important resources available to determine when genetic testing should be employed, so they can learn and build experience right away.

These resources include:

  • Genetic counsellor opinion. Genetic counsellors are experts in helping analyze the risk of disease development due to DNA mutations based on available medical records. They are hyper-trained to be such experts. The genetic counselling profession is very strictly guided by ethics regarding patients’ informed consent. Therefore, genetic counsellors add another very important layer of patient safety. Genetic counselling should always be considered when a pathogenic mutation is uncovered from a DNA test.
  • Medical geneticists on staff by the company providing the DNA testing. Similarly, such opinions can be sought from the hired experts of other DNA testing companies with which Merogenomics collaborates. These companies come with incredible laboratory experience with regards to DNA testing and there is little they have not seen or dealt with when it comes to patient genetics (genetic mutations can be extremely diverse). They often employ some of the best genetics experts and are centers of excellence comparable or exceeding such centers established by hospitals around the world.
  • Asking colleagues at local or other hospitals that are also centers of excellence of medical genetics.

It is hoped that with the use of these resources, doctors can quickly gain valuable experience and the expectation is that more doctors overall will become comfortable in using medical DNA testing for their patients.

We expect to grow this list overtime as we continue to build convincing validations behind additions patient events that should warrant immediate genetic testing consideration. But we believe that this is an excellent starting point for doctors.

Contact Merogenomics for additional information on how to get started with medical DNA testing in your clinic.

Alternatively contact Merogenomics if you frequently encounter patients defined in above described categories and would like to participate in a referral program.

 

This article has been produced by Merogenomics Inc. and edited by Jason Chouinard, B.Sc. Reproduction and reuse of any portion of this content requires Merogenomics Inc. permission and source acknowledgment. It is your responsibility to obtain additional permissions from the third party owners that might be cited by Merogenomics Inc. Merogenomics Inc. disclaims any responsibility for any use you make of content owned by third parties without their permission.

 

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Select target group for DNA testing

Healthy icon Undiagnosed Diseases icon Cancer icon Prenatal icon

Healthy screening

Undiagnosed diseases

Cancer

Prenatal

 

Or select popular DNA test

Pharmacogenetics icon NIPT icon Cancer icon Genome icon

Pharmaco-genetic gene panel

Non-invasive prenatal screening

Cancer predisposition gene panel

Full genome