Genotyping for Doctors

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Genotyping for Doctors

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A Quibble Nibble

Using Genotyping to transition from a reactive to a proactive healthcare for the long term

 by Rao Mallik Kotamarti, PhD Chief Scientist, Co-Founder

Quibble Genomics Institute Inc.

Treating patients is a calling for most medical practitioners, whose profession demands highest standard of ethics in every aspect.  Communicating health information to a patient and family who already feel vulnerable is by far the core and critical aspect in a physician’s day to day operation. In case of a suspected health condition, a Physician typically educates and advises the patient before ordering a test. In case of a confirmed condition, both engage in a management plan to keep the condition under control.  This is a practice well understood by patients, providers and insurance companies.

Human genome project offered a promise to know about a patient’s predisposition to health conditions to enable patients and providers prepare better and hopefully prevent the onset of at least some conditions.  Analysis of a large number of patients confirmed for a certain condition revealed some common positions along some genes which became gene clues which are easily obtainable using Genotyping. However, the clues are not clinically conclusive.

Emerging role of Gene Clues

CDC recommends some clues as sufficiently confirmed while most as insufficient as a conclusive diagnostic.  The list of clues and the associated conditions can only get larger as more evidence is collected; meanwhile, the ethical dilemma for a physician is if and when a patient should be advised to enroll in a preemptive or at least a management plan.  There is no insurance support or a practice guideline per se in dealing with the gene clues despite the fact there are numerous publications asserting relevance of observed gene clues for some health conditions. This defines an interesting battle of choice between patient and the provider.  A patient may choose to respond to the information in a positive pre-emptive fashion under guidance of a physician while the provider may advise need for an action only when it is clinically feasible from an insurance and regulatory point of view; avoiding unnecessary tests and procedures even if insurable is something most physicians strive for to avoid scrutiny down the road.

Img2.jpgCommon view for a clinical possibility of a health condition.

In some ways, a genotype is a type of information best facilitated under clinical guidance where patients use it for proactive purposes while physicians use it for substantiating their own clinical findings and judgements using more traditional approaches. This is a reasonable tradeoff until more and more condition confirming genotypes find acceptance with CDC and medical community at large. Undoubtedly, this is a one way street where the use and prevalence could only rise based on a one time genotyped data. 

As gene clues, patient readiness and physician’s observations converge, both patient and provider find themselves at an optimal point of more actionable conclusion.  This transition from a proactive facilitation by provider and proactive participation from patient, to an active treatment plan in optimal time enables for optimal results for all.

Using a common view of patient’s DNA information, through the use of a convenient mobile app GeneClues® by Quibble Genomics, patients and providers can engage in proactive to active management of health conditions.  Additional benefits of such last mile bridging approach are countless as the information is automatically updated with timely alerts and useful articles tailored for a particular condition and/or a medical specialty.