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The top three protections for physicians using genomic medicine

The top three protections for physicians using genomic medicine

31/12/2018
Posted by:

Dr.M.Raszek


Medical DNA testing is taking over the world

Genomic medicine is starting to take hold in conventional medical practice. It might not be encountered by the average patient yet, as still very few, mostly private, clinics offer access to DNA sequencing technology. But many of the major hospital centers around the world that deal with some of the most difficult genetic conditions have already embraced the diagnostic use of DNA testing. The emerging trend is becoming clear. First the most prestigious centres and institutes adopted the technology. This was followed by the more widespread use of this technology by many other major hospitals around the world. If the hospital is big enough and prestigious enough, it will be using DNA sequencing for their patients.

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From there, it slowly seeps into the remainder of health care centres, big and small, and this process can be rapid or slow, depending upon the cost and complexity of the tools being adopted. Currently we are already past the point of adoption by all of the biggest hospitals and health centres around the globe.

Genome sequencing for clinical use is not an easy system to incorporate into medical practice however. It is complex, has many moving components, is technically challenging, which requires the involvement of many qualified personnel, and it is not cheap. But for what it offers, in the world of medical expenses it is already at a very acceptable price range. It could be easily argued that it is already a bargain, considering that looking into your own DNA is like getting a security check on your own health. It allows for the potential prediction about the outcome of a disease before any knowledge of symptoms appears.

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Another challenge is the novelty of the technology: we still have very few well-educated and experienced doctors who can provide genomic medicine. This simply will have to resolve itself in due course, as it means that time has to elapse for current doctors to educate themselves about DNA testing as a clinical tool and start adopting this new technology, while we keep graduating new doctors who have been familiarized with precision medicine and possess the understanding of DNA sequencing technologies. It is a topic being adopted in the medical curriculum around the world.

But what if you are a doctor who wants to adopt genomic medicine now?

Or what if you are a doctor who has already introduced the use of DNA sequencing in your practice to assist your patients in their medical care, and want to make sure that the technology is used safely for the benefit of all patients?

Or what if you are a doctor who simply encounters DNA sequencing test results, and wonders about the validity of the results or the safe practice use of such results?

The following are the three most basic, but critical, steps to help you ensure safe practices, protect your patient from the harm of any test misuse, and at the same time, protect yourself and your practice from liability.

 

Genetic counseling after DNA testing

The most basic and crucial step you can take as a doctor to protect both your patient and yourself from the misuse of DNA sequencing results is to refer the patient to genetic counseling regarding the test results. This step automatically introduces another important layer of protection for the patient because it places the DNA test results into the hands of a certified professional who is specifically trained to analyze such results, and ensures that the results are used correctly for the management of patient care. Genetic counselors are also trained in assessing the risk of condition development in the patient versus other family members, including potential offspring. Genetic counselors have a background in psychology and are trained to effectively deliver difficult information. It is for such reasons that basically all worldwide guidelines on medical genomic testing stipulate the need for involving a genetic counselor when dealing with the interpretation results of a DNA code.

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In addition, genetic counselors are more likely to encounter a variety of different testing options and their results, so in time can become familiarized with different quality tests. A doctor that is not familiar with different DNA sequencing test options might not be able to recognize the nuances that might distinguish good quality tests from poor quality tests.

Thus referring a patient with genetic results to a genetic counselor provides a very important additional entity to overlook the patient’s results with the best-care intentions for the patient. This can provide the peace of mind that the patient is properly managed, and that the guidelines are being followed. Also, if the overseeing doctor potentially made a mistake in interpreting the results towards the patient’s clinical care, there is an avenue available to help immediately correct the error.

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The referral to a genetic counselor is an easy step, and an ethically correct move to safeguard the well-being of the patient.

 

Licence to test your DNA

A referral to a genetic counselor is an easy way to pass the patient along to another specialist, but a physician can also do their own homework regarding the test. One of the easiest ways to measure the quality of the DNA test in terms of its acceptability towards medical interpretation is to determine what kind of accreditation has been granted to the laboratory performing the test. The most common accreditation you will see or hear about is CLIA which stands for “Clinical Laboratory Improvement Amendments” and is the US standard for demonstrating that a laboratory satisfactorily meets the requirements to perform clinical grade testing. Another one you might encounter is ISO1590 which is a close international equivalent of CLIA. There are other accreditations as well, but these will be the most common ones you will likely encounter. In essence, if the laboratory is licenced to deliver clinical testing, the doctor can at least have the peace of mind that the DNA testing results meet the clinical quality prior to further investigation, and that what the test claims to be measuring is truly being measured.

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There might be laboratories that do not have any accreditation and yet deliver excellent quality results of the highest standard, as it is a long and time consuming process to meet these requirements, but unfortunately at that point, there is no easy way of verifying that. One trick of doing so is mentioned below, but if you want to stay safe, stick to accredited labs only for test results. As a doctor considering the incorporation of DNA tests results for patient management, be it for the analysis of potential drug response, disease risk, cancer etiology or fetus health, checking if the laboratory is licenced is the most basic and most important due diligence that can be done to ensure that the results being used are of appropriate standard. If the laboratory is not licenced for clinical testing, you expose yourself to potential liability for using results that might not actually be accurate, and could potentially be harmful to the patient. The easiest way to avoid that pitfall is to make sure that you only use results from an accredited laboratory.

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Verify the DNA test technical efficiency

The third step to ensure that as a doctor you provide the best care and due diligence when using DNA sequencing information towards patient management is to actually investigate and collect the information on how good the quality of the DNA test measurements actually are. This is referred to as the analytical validity of the test, or technical efficiency of the test. In theory, if the laboratory delivering the DNA test results is licenced to deliver clinical grade results, then such a laboratory is supposed to be regularly measuring the performance of its instrumentation to ensure the delivery of the highest quality results. However, such information might or might not be readily available, and having access to such information allows one to understand how well the test performed in comparison to the expected standards. Accessing and recording analytical validity information indicates due diligence on behalf of the physician to make sure that quality results are indeed used for medical management of the patient. This shows that the doctor has gone out of their way to make sure patient safety is looked after. Such information also allows for the tracking of standard quality between current different tests or the same test over time.

What is meant by analytical validity then?

It should include number of different metrics, but at the very least it should include the sensitivity and specificity of the DNA test, and the range of the test capacity to capture measurements. Ideally, this should also be provided based on the type of DNA alteration (or type of DNA mutation) being measured, as any given DNA sequencing machine might have different performance abilities for different types of mutations.

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Armed with such information, the doctor can then determine which type of information could be used instantly and if any other information from the results should be verified further prior to making treatment or medical management decisions.

In case the doctor did not collect or have the available accreditation information at hand, or the lab was not licensed, having analytical validity information at that point becomes paramount to know if the test quality is up to par.

These considerations regarding the quality of the DNA testing can also be looked up by an interested client. Simply look up the website of the company whose test you are considering and see what information is provided to you. The top-tier companies will always be certified, will provide both the technical efficiency information and certification numbers on their site, as well as provide access to genetic counseling services. However, keep in mind these companies know this type of information is never looked for or desired by the client (due to their lack of understanding of the product), and you are more likely to find this information at a section of the website specifically dedicated to the physicians.

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More to DNA test than meets the eye

These are some of the basics steps to be taken by a doctor to ensure that patient DNA test results are used appropriately. There is much more to consider when incorporating genomic medicine into practice when it comes to following adopted international guidelines, many of which have been developed only in recent years, or still await development (for example, DNA code data interpretation). Every step along the patient path from desiring DNA testing to utilizing the results will have many points to consider. There are guidelines on how the patient is selected for DNA testing in the first place. There are guidelines on how the test is to be selected for the patient. There are guidelines on test results use in medical care based on whether the patient is an adult or a minor. And there are guidelines on how to handle incidental findings, or unanticipated results. There are also guidelines on how to measure outcome impact in the context of clinical care. There are even guidelines on how to dispose of a patient that is disappointed they did not discover a disease predisposition in their DNA. Ok, jokes on that last one, but there are many suggestions that have been made on how to deal with medical genomics.

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And that is only a piece of the puzzle!

Then there are also decisions to be made on which service providers to select, and that is another entire checklist in itself. Thus, that would easily be a topic to cover in another post. One important point in that area was covered above.

If your clinic aspires to introduce medical genomics into its practice, or if you wish to verify your existing approach, Merogenomics can help you to instantly start providing DNA testing for your patients, ensuring the highest quality of testing (including the interpretation), according to the latest guidelines available. Contact Merogenomics for a free quote and background information.

In the meantime, as a minimum, follow the three steps outlined above.

Happy New Year and happy genome sequencing from Merogenomics!

 

This article has been produced by Merogenomics Inc. and edited by Kerri Bryant. 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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