Integrating our service into your practice
The following are some vignettes illustrating the use of personal genomic data in clinical decision-making.
Patient X: Total cholesterol 200 mg/dl; HDL 40 mg/dl; LDL 100 mg/dl. One grandparent had a heart attack at age 62. Do you treat with statins or just follow the patient and encourage lifestyle changes?
What if all his genetic markers tested were positive for increased risk of heart attack, and the only reason more relatives didn't show heart disease was because they died young of other causes? You might want to consider discussing the use of statins with your patient, given the additional genetic information.
Patient Y: 10 years of abdominal gas and bloating, believed to be irritable colon. She now presents with osteoporosis, anemia and neuropathy.
Would it have helped 10 years ago to know that she was genetically predisposed to celiac disease, which could result in malabsorption of food and nutrients, leading to the above consequences? Certainly, it might have led to important conversations, considerations and lifestyle modifications.
Genetic information can be used as an additional tool for patient evaluation and treatment. A new model for physician-patient interactions involving cutting-edge information from whole-genome scans is emerging. Genetic analysis allows a physician to personalize patient care as never before. For example, a 40-year-old with genetic markers that increase his risk for colon cancer may be referred at an earlier age than standard recommendations for a screening colonoscopy.
Physicians currently use family history as a surrogate for genetic predisposition, but patient-reported family history can be misleading, inaccurate or incomplete. A grandfather reported to have died from alcohol-related liver cirrhosis actually may have died from undiagnosed hemochromatosis. Patients who were adopted or conceived via donor egg or sperm may not know their family medical histories. Genetic risk assessment can help you determine when it is appropriate to consider early disease screening and when to avoid unnecessary early screenings or other interventions.
Bottom line: Knowing the genetic predisposition of a patient can help you make more informed choices regarding diagnosis and treatment.
