Today is my first day back to school. I have not been a student for a long while. Definitely need some time to adjust myself. Meanwhile, I am establishing a new branch in my blog named “Genetic Counseling”, which is my current major for the next 2 years. I want to journal what happens in the ensuing two years, especially cases I will study and skills I will develop. In addition, I hope more people will learn and understand genetic counseling as a growing profession through my blog. We are in a genomic era. Almost every disease could be tracked down to gene level. The sequence of human genome has long been revealed. But what’s more important is to explore the biological interpretation of those digital codes, decipher the association between DNA sequences and certain diseases. Thus effective therapy would be developed accordingly. The advancement of genetics will fuel the evolution of medicine. Genetic counseling is a young profession, only about 30 years old. It belongs to allied health. Genetic counselors provide consultation to patients; they also provide information and opinion on diagnosing and treating diseases in multi-disciplinary teams.
Since I was accepted by the program in Arcadia University in PA, I have kept thinking how I can effectively apply my biomedical research experience and acquired training to serve patients. Understand how patients feel and what they really need is the first step. To this end, I read several personal accounts about genetic disorders including “The cure” about Pompe disease, “Count us in” about Down syndrome and “Worth the ride” about Duchenne muscular dystrophy during summer vacation. Every story was very inspiring. Patients and their families don’t need pity. They want to be treated as independent human beings. They serve as vehicles to educate general public and advocate scientific research for shedding light on the molecular pathogenic mechanisms and developing target drugs.
Where do genetic counselors fit in this big picture? I think genetic counselors can help those patients at least on the following two aspects. First, provide precise information for patients to make decisions benefit their life, this is the basic function of a genetic counselor, i.e. educating patients and their families about inheritance pattern, recurrence risk, diagnostic testing, management strategies and therapeutic approaches, and prevention and prognosis as well. Second, provide psychosocial counseling to patients and help them cope with and adapt to the new conditions. Genetic counselors are standing in the forefront of genetics; updated genetics information will bring hope to patients and their families, effective psychological therapy would be of help for taking patients through the transition, gaining confidence to positively manage genetic disorders. Though science is not a sprint but a marathon, constant evolution is an unavoidable trend for future medicine. For example, the genes causing cystic fibrosis and Duchenne muscular dystrophy were discovered in 1980s. No effective cure thus far. However, CF or DMD patients’ life expectancy has been dramatically extended within the past two decades by helpful medical interventions. Thus, keeping positive and making efforts to bring the best outcome is very critical for both patients and counselors.
Preventing and treating diseases, promoting the quality of life, undoubtedly, is the ultimate goal of medicine. To reach that goal, scientific research is the key. “But the timeline is agonizingly long for translation of scientific knowledge into practical benefit. The road to tangibly better lives from scientific insights is unpredictable and filled with dead ends and U-turns. That’s the nature of science and there are no shortcuts.” But the better we understand our genes, the better we will be able to act on the knowledge and improve our lives. I believe that my extensive and in-depth research experience will benefit my future career as a genetic counselor.
