The face of healthcare and medicine as we know it, is set to change forever as scientists learn more about how our genes contribute to health and disease. The swift progress and seemingly endless discovery of new applications in the genetics is turning the human genome into the ‘blockchain of healthcare’. The goal of genetic testing and genetic screening is to identify changes in chromosomes, genes or proteins to confirm or rule out a suspected genetic condition, to assist in determining the likelihood that a patient could develop or pass on a genetic disorder or to predict a patient’s response to therapy. Essentially, genetic testing and screening is used as a tool to detect the gene variants associated with a specific disease or health condition. Genetic testing and screening can also be done for non-clinical uses such as paternity testing and forensics. In the field of reproductive health, genetic testing and screening is often done to screen embryos used in in vitro fertilisation, foetuses and new-born babies for genetic defects. At present, more than 2000 genetic tests are in use, with additional tests being developed continuously and the variety of tests expanding rapidly.
An example of how genetics is revolutionising the healthcare environment, can be seen in the reproductive field. In 1960, with the revolution of birth control, sexual intercourse became decoupled from reproduction and couples no longer had to worry about procreating when having intercourse. Today, there is a sexual revolution upon us in which reproduction is decoupled from intercourse and people no longer need to have sex to have a baby. Couples struggling to conceive have turned to in vitro fertilisation (IVF) to have children. As more women are delaying childbirth, many are opting for egg storage, so that their biological clocks don’t dictate when the best time is to have a baby. Additionally, more men are considering storing their semen, especially those that are undergoing cancer therapies and those men involved in extreme sports which affect the quality of their sperm.
However, making a baby is largely pot-luck and this is where genetic testing and genetic screening is useful. Everyone hopes for healthy children and advances in genetic testing are resulting in more couples opting for IVF to ensure this. More and more couples undergoing IVF will opt for genetic screening of their embryos before implantation. While the field of genetics promises major advances in human health, it is important to ensure that healthcare practitioners act in an ethically responsible manner. Genetic testing and screening are voluntary and there are benefits, risks and limitations to a particular test, the decision about whether to be tested is a personal and complex one for all patients.
It is vital for healthcare practitioners to be transparent and follow the correct procedures when engaging with patients by providing all the relevant scientific information on the accuracy and usefulness of the specific genetic test so that the patient is in a position to make a properly informed decision. Emphasis should also be placed on determining if the test is appropriate and valid for the specific patient. In the future, genetic testing and screening will be an important part of healthcare for many individuals but a great deal of work needs to be done to bring existing legislation up to date with international trends.