Personalized Medicine

Author: Gianpiero Pescarmona
Date: 05/07/2011


Personalized Medicine is use of information and data from a patient's genotype, level of gene expression and/or other clinical information to stratify disease, select a medication, provide a therapy, or initiate a preventative measure that is particularly suited to that patient at the time of administration. Personalized medicine makes it possible to give: "the appropriate drug, at the appropriate dose, to the appropriate patient, at the appropriate time".

The Human Gene Map for Performance and Health-Related Fitness Phenotypes: The 2005 Update

Some additional definitions and links to commercial genetic testing

Riken approach to prevention

Determining the genes associated with autoimmune disorders such as rheumatoid arthritis in order to understand the disease mechanisms and establish innovative therapies

Rheumatoid arthritis is a chronic disease characterized by pain, swelling and deformity in the
joints. It is recognized as an autoimmune disease in which the immune system attacks its own joint
tissues, but the causes remain poorly understood. About 1% of the Japanese population suffers from
rheumatoid arthritis. Other common autoimmune disorders include systemic lupus erythematosus
and autoimmune thyroid diseases.
The Laboratory for Autoimmune Diseases focuses mainly on the study of rheumatoid arthritis.
Notably, we have demonstrated through an extensive analysis of SNP-typing data from patient and
control groups that four genes--



are implicated in the pathogenesis of the disease. Individuals with a specific SNP types in the PADI4 gene region have elevated expression levels the PADI4 enzyme for citrullination. This is believed to be a contributing factor in the onset of rheumatoid arthritis because anti-citrullinated protein antibody is the most specific disease marker. FCRL3 is expressed by antibody-producing B cells and may be involved in a
mechanism that facilitates production of autoantibodies. By elucidating the role of candidate genes
associated with autoimmune diseases such as rheumatoid arthritis, our work will provide useful insights into disease pathogenesis and pathological states. Our research laboratory is currently collaborating with university medical schools and pharmaceutical companies to translate our research results into effective treatments.

Online physician access is key to future patient communications July 2011

Online physician access is key to future patient communications

by Aaron George

Imagine using Skype to contact your physician for a consult.

In the midst of this rapidly progressing technologic era, our delivery of medical services is being transformed by health information technology (HIT), electronic medical records (EMR), and advanced telecommunications. In meeting criteria for “meaningful use,” physicians are driven to use these technologies to empower patients with communication through electronic medical records. A primary goal is to allow patients to obtain electronic copies of their medical records and share their health information securely over the Internet with their families. An overarching goal is to increase patient accessibility and communication with a physician to bolster continuity of care.

Communication. It all comes down to communication. This accessibility for patients to immediately communicate their worries of symptom or illness to a physician. The opportunity for physicians to instantaneously respond. As we embrace these technological opportunities of communication, physicians are open to new modalities for health care delivery – office visits can be supplemented not only by telephone calls, but now email, Skype, Gchat, or any other imaginable resource or emerging technology.

Under the current Medicare payment system, a physician can only be paid for seeing a patient in the office. On my clinical rotations, I have witnessed an increasing number of physicians who respond to patient emails through secure health care portals. These emails promptly and conveniently enable a physician to address patient concerns. In the event that an email is not satisfactory to do so, the physician simply asks the patient to schedule an office visit. Our physicians should be reimbursed for this time.

CPT codes exist for non-face-to-face services, including telephone calls, but these codes are not included in payment models through Medicare. Further, there is currently no established method of payment for any advanced telecommunications counseling or physician interaction.

Online physicians counseling has been increasing in the past five years – charging around $25 for a five minute consultation – with the ability to provide personal prescription. These sort of interactions may be able to address simple patient questions, but really may go a long way towards harming the bond of the patient-physician relationship. Interactive care simply cannot be coordinated within the confines of a five minute video chat.

However, I believe that there is an ever-increasing potential for the integration of these video chats, and other counsel through advanced telecommunication, as a compliment to the traditional office visit. Imagine the typical family physician that holds normal office hours for patients throughout the day. Suppose that from, say, 1-2pm each day that physician also chose to hold online “office-hours” for any of the patients within his practice. During this time, patients could address basic questions, initiate follow-up issues, or discuss health maintenance. Just think of the wonders of diabetic counseling! A family doctor would have the accessibility to voice chat with a difficult or non-adherent patient once each week for five minutes, with appropriate reimbursement for time spent.

Nothing can truly supplant the face-to-face relationship between a doctor and patient. That bond and the value of that interaction can not be underestimated. Nor do I believe that proper diagnosis or treatment can be duplicated across a platform like Gchat. However, with ever-rising patient needs and increasing accessibility issues, physician time is increasingly valuable. Patients too may struggle in regularly scheduling and attending office visits. Ultimately, utilizing these technologies would be cost-saving, efficient, could reduce preventable hospital admissions, expedite the identification of acute care instances and decrease time to treatment. For those patients that choose to embrace this modality, this could improve quality and patient satisfaction.

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