Genes tell the body how to develop and function. Humans have approximately 30,000 genes. A complete set of our genes is located in the nucleus (or control center) of almost every cell in the body. Genes are organized on structures called chromosomes, and humans have 23 pairs of chromosomes. Chromosomes are made of DNA (deoxyribonucleic acid), which is a molecule arranged in a linear sequence. Genes are made up of specific DNA sequences, which serve as templates to make proteins that carry out each gene’s function. Genetic testing is an analysis of the DNA sequence of a gene that looks for abnormal variations (or mutations). Some variations may be harmful because they can disrupt the gene’s ability to make a functional protein. These harmful variations are known as disease-causing variants.1,2
Genetic testing isn’t right for everyone. A few of the general benefits and risks are listed below. The list is limited, and not all the points may apply to everyone. However, they might provide some useful things to think about when considering genetic testing. It is encouraged that individuals discuss this with their doctors and possibly family members.
There is no right or wrong answer regarding undergoing genetic testing – other than what the right answer is for the individual and their family.
Genetic test results are sent to the genetic counseling provider and to the study investigator of the study center where the participant is enrolled. The genetic counseling provider will discuss the genetic test results with the participant.
No personal identifying information of individuals referred to the study or individuals participating in the study will be shared outside the study team and regulatory agencies.
*InformedDNA is an independent provider of genetic counseling services in the USA. The InformedDNA geneticists and genetic counselors are board-certified. Participants have the convenience of participating in private genetic counseling sessions via telephone. For more information, visit InformedDNA.com.