Andrea Uscinski, MS, Genetic Counselor and Research Coordinator at Harvard Institutes of Medicine will respond to your questions related to genetics and genetic testing every Wednesday beginning tomorrow, October 17.
Simply post your questions and concerns in the in the Genetic Testing Q & A section of NephSpace (link: http://nephspace.clinicahealth.com/topics.pl?op=displayTopic&topic=5).
Andrea kindly provided us with an overview on genetics and the importance of genetic research to get started:
WHAT IS GENETIC RESEARCH?
It’s on the television, it’s all over the internet, and it’s starting to come up at doctor’s appointments, but what do people really mean by “genetic research” and why do people participate?
Genetics is the study of genes, small fragments of the DNA found in every cell of our body, which we inherit from our parents and pass on to our children. Genes serve as the instructions for the body to carry out its functions and give rise to traits like eye color or height. Because genes also instruct the growth and development of organ systems, scientists are studying genes to understand how kidneys work and what causes kidney disease.
There are various reasons that people develop kidney disease. Environmental or lifestyle factors such as diet, level of exercise, infections, or stress; a previously existing condition, such as diabetes or lupus; and inherited diseases such as Alport Syndrome or Polycystic Kidney Disease (PKD) can all cause kidney disease. Scientists are looking at genetic differences (also referred to as genetic changes, mutations, or variants) to find out why certain people develop kidney disease while others do not and how to develop better treatments in the future.
Genetic differences have an effect on the way the body reacts to its environment. For example, there are some people who have poor eating and exercising habits and high stress levels who never go on to develop kidney disease unlike other people with the same habits. Some people may have genetic variants that act protectively against kidney disease while others have genetic changes that have increased susceptibility.
Genetic research teams usually ask for a blood sample (blood is a good source of cells from which to extract DNA) so that they can compare the genetic differences between people with and without kidney disease. However, it can take a long time to sort out as these variants may or may not be clinically meaningful. For example, one result of genetic variation is eye color, a characteristic that imposes no health problem. Families that participate in research can be very helpful because they share many genes in common and it is often easier to determine which genetic changes are disease-causing and which ones are normal variants in a population.
In some kidney diseases such as Alport Syndrome or PKD, scientists have identified changes within specific genes that are known to cause these conditions. However, in other conditions such as FSGS or Nephrotic Syndrome, only a few genes are known to be involved in these conditions, and there are probably many more to discover. Once a research team has discovered a gene, they can look for meaningful changes in the gene and can study the way it interacts with other factors including present and future drugs and therapies.
WHAT IS GENETIC TESTING?
Genetic testing is a way for people to find out if their kidney disease has been associated with any known genetic changes. A genetic test can often give a doctor information about how to treat or manage a person’s kidney disease, information regarding the chance that other family members may develop kidney disease, and information about the cause of the condition. However genetic testing can bring mixed feelings within a person and between their relatives. While some people want to know as much as they can about their kidney disease or their chance of developing kidney disease, others feel overwhelmed by the information or simply prefer not to know. There is no “right answer” and a genetic counselor can help a person and his/her family make a decision about genetic testing that is right for them, and if necessary help interpret results.
Research genetic testing is a service that is often offered by an academic institution such as a university teaching hospital. You may hear about opportunities through a doctor, research coordinator, support group, website, or advertisement. Results from research genetic testing take longer but are usually covered by the research team. These results generally do not become a part of the medical record and are not seen by insurance companies or employers. However, they may be difficult to interpret because they may be new and/or preliminary. In addition, people can participate in research studies and choose to remain anonymous or elect not to receive results. Research genetic testing is available for most types of kidney disease.