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Feb 15, 2013 (Vol. 33, No. 4)

Genomic Data in Patients’ Hands

  • Reconciling Mismatched Information

    Services from distinct companies sometimes provide different pieces of advice, and this may be a source of confusion for both consumers and professionals.

    “In 2009, I designed a mobile application platform to provide a side-by-side comparison of different genes and SNPs that different consumer genomics providers review,” says Melanie Swan, founder of DIYGenomics, a nonprofit research organization that proposes to use genomic information to complement the information consumers obtain from healthcare professionals.

    A free and open-source application offered by DIYGenomics, currently informative on up to 20 health conditions, the response to 200 different drugs, and athletic performance information, is available on three platforms: Android, iOS, and Windows Phone. “We’ve had about 10,000 downloads,” says Swan.

    Genomic information uploaded on the mobile application can actively guide healthcare decisions. For example, a patient with heightened risk for a specific cancer may decide to undergo more frequent screenings, or use information about athletic performance to customize training programs. “In my case, I have more mutations in my strength-related genes, and this prompted me to include more weight-lifting into my daily regimen,” reveals Swan.

    These developments are paving the way for the time when personal genome information will be included in everybody’s medical file. “We are coming into an era where health becomes an information science, and by integrating multiple different types of data files about an individual, we can use quantitative data at the level of risk and probability to develop a preventive medicine strategy and work toward keeping people healthy,” explains Swan.

  • Exploiting Cell Phones’ Reach

    “We wanted to develop a portable device to perform DNA- and RNA-based assays,” says Syed A. Hashsham, Ph.D., professor of civil and environmental engineering and Michigan State University. Recently, Dr. Hashsham and colleagues described Gene-Z, a user-friendly device that relies on a disposable microfluidic chip, and allows the simultaneous quantitative detection of multiple genetic markers with high sensitivity and specificity.

    In this application, real-time measurement of isothermal amplification products using fluorescence allows the quantification of multiple genetic markers at a single temperature, and the wireless interface and smartphone application for data analysis and reporting illustrate its utility for affordable and reliable point-of-care genetic testing. Point-of-care tests are ideal for assays that have immediate or long-term health benefits or may save lives, and for those that present a minimal risk for false-positive results and have full support systems in place for consumers undergoing testing.

    “So there may be some assays that are never good for a cell phone, while other are very good,” says Dr. Hashsham. This strategy is not limited to genetic assays, but any device developed for genetic assays may also be adapted for antibody-based or chemical assays, because most reactions rely on colors that develop based on a specific signature molecule.

    “What I have next in mind is using color assays for diseases such as diabetes or measuring cholesterol levels,” says Dr. Hashsham. One of the challenges with point-of-care testing is not the technical challenge but the business model, because an emerging or a new technology generally boasts about its low cost but at least in the initial stages must get off the ground without high sales volumes.

    “But if we are able to develop genetic diagnostic applications on cell phones, we can reach billions of people without the need for expensive monitors. As we all know, the number of people with a cell phone is already more than those with a toothbrush,” says Dr. Hashsham.

  • Real-Time Monitoring and Feedback

    According to recent Centers of Disease Control and Prevention estimates, 80% of heart disease and strokes and 40% of cancers are preventable through the elimination of risk factors. A key requirement to facilitate the development of management strategies is the identification of actionable risk factors. Mobile health applications, which involve technologies that monitor parameters such as heart rate, body weight, and blood pressure, help integrate these components, which normally would not be brought together, and allow healthcare teams to gather real-time data while the patient is not even in the office.

    “All these data allow real-time continuous monitoring and, most importantly, real-time feedback,” says Samir Damani, M.D., PharmD, founder and CEO of MD Revolution. By allowing people to track their activities and increase their awareness of what they are doing, these initiatives help motivate changes in behaviors, such as healthier eating habits or increased exercising. “Mobile health is an enabler to measure, monitor, and motivate,” says Dr. Damani.

    MD Revolution has its own software system that helps integrate these mobile components, and shares them not only with the medical team but also with the patient. “One of this model’s strengths, in comparison with traditional healthcare settings, is patient empowerment through mobile technology and genetic information, and this will shift the paradigm from a doctor-centric to a patient-centric model of healthcare, in this country and beyond,” explains Dr. Damani.

    Applications that bring genetics and genomics closer to consumers promise to start filling a longstanding gap in public awareness and preventive medicine. These platforms help identify medically actionable information and deliver strategies for prophylaxis, therapy, and surveillance, and their development is foreshadowing a time when consumers and healthcare teams can routinely incorporate personalized genomics into lifestyle decisions.


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