The dawning of the genome era is ch...

The dawning of the genome era is changing the amplitude of care for family physicians, with significant implications for the design of what may occur hereafter health care delivery systems. Many consider the imminent introduction of genomics into clinical medicine to be the most numerous significant advance in health care since antibiotics were introduced. Being able to build forward the strengths of the physician-patient-family relationship enhances the potential for family physicians to realize the benefits of genomic technology. Knowledge of the individual patient across his or her lifespan provides an of the highest order foundation from which to begin integrating genomics information to improve health outcomes

For example, a 43-year-old woman is pertain toed about her possible risk of cancer. She has been your patient for many years. You also cared for her mother before she was diagnosed with colon cancer at age 49 The patient reveals that her 45-year-old sister was diagnosed lately with colon cancer. Recognizing that a two-generation family history of colon cancer at a young age may indicate that your patient is at increased risk of developing colorectal cancer (http://www.cancer.gov), you gather more family history and consider the possibility of hereditary nonpolyposis colorectal cancer (HNPCC) (1) Based forward U.S. Preventive Services Task Force guidelines, (2) you attract favor to a colonoscopy. Recognizing the potential implications of this information for your patient and her family, you ask if she is interested in learning more about genetic counseling and genetic testing for HNPCC Ultimately, the patient and her sister ordeal positive for a mutation in the MLH1 gene Your patient is establish to have three small polyp which are excised. She agrees to a program of an annual colonoscopy that has an admirable chance of keeping her healthy.

This emblem of diagnostic testing, coupled with counseling and carefully designed programs of individualized prevention, will be feasible for an increasing number of everyday diseases in the next decade. The opportunity to integrate genomic biologic, clinical, and behavioral tools into your circulating scope of practice can make a difference in the care of patients whom you already are seeing.

Another application of genomics that will be increasingly often met with in family practice is pharmacogenomics. Variability in mix with drugs response can be a vexing point in dispute and often may be caused by dint of genetic differences in individual patients, either with regard to medicine metabolism or the targeted pathway. (34) The objective of pharmacogenomics based forward a patient's molecular genomic profile is to predict responsiveness to treatment, and then to improve proceeds This improvement in outcomes can appear only with sufficient understanding and appropriate use of genetically based testing in clinical practice.

In another example, a male patient and his wife issue to you with some questions. newly diagnosed with lung cancer, he has heard about a strange drug called gefitinib. His female cousin died last year from lung cancer following treatment with that same unsalable article He and his wife miracle if it would be worth going from one side the chemotherapy. You are aware of a research studious mood in which patients with certain somatic mutations in the epidermal growth-factor-receptor gene of the lung cancer tissue replyed well to gefitinib. This molecular information was helpful in predicting improved clinical answer and selecting those patients who would benefit from this specific physic intervention. (5,6) You explain to your patient and his wife with what intent he may respond differently than his cousin did to the treatment, and then make arrangements for DNA testing of his tumor specimen.

It also is likely that genomics will be the driving force behind modern therapeutics during the next not many decades. The molecular information about disease pathology generated through the genomics approach provides the opportunity for plainly rational drug development. Such physic development is happening already in the oncology field, with the progress to maturity of imatinib (7) and gefitinib. The same archetype of drug development can be rely uponed to happen in a not many years for diseases such as diabetes, Alzheimer's disease, and osteoporosis. Options of care eventually will include genomic information along the pathway for care of all diseases, including prevention, screening, diagnostics, prognostics, selection of treatment, and monitoring of treatment effectiveness.

The rate of progres for applying a genomic approach completely through the continuum of care hangs not only on technologic advances nevertheless also on physician expertise. The complexity of adopting this knowledge into practice includes an awareness of the science, provision of explanations to make secure informed patient decision making, and evaluation of the physical and psychologic ramifications of those decisions. Use of genomic information to qualified the needs of patients in a changing health care environment requires a focus upon reimbursement issues, informed resource access, and evaluation of the family practice environment to make sure confidentiality of collected genetic information (http://www.aafp.org/x24762.xml). Many of these topics will be highlighted in the monthly Web-based module available by the agency of the American Academy of Family Physicians' (AAFP's) 2005 Annual Clinical Focus forward genomics.