Genetic nursing is a relatively new and growing health area. Specifically, genetic nurses will perform risk assessments, obtain a detailed family history, construct a pedigree diagram, provide genetic information and psychosocial support to individuals and families. For the Advanced Practice Nurse, the role as a genetic nurse also includes genetic counselling, facilitating genetic testing and interpret genetic test results and laboratory reports. Genetic nursing is an innovative new role which is yet to be embraced in all countries.
In Australia, you are unable to organise a genetic test until you have been engaged in genetic counselling. My husband was involved with genetic counselling and in my view, it was the poorest counselling I had ever seen. Innovation comes in many forms, with one being new roles to address a contemporary need. Nurses are now filling this need by becoming genetic nurses.
The area of genetics and genomics, whilst fascinating, is also a sensitive area for those receiving the genetic assessment. Genetic science is a field of biology that studies genes, hereditary pathways, and genetic variation. However, for the person receiving the genetic assessment, it questions future health and well-being. The possibility of passing on a hereditary issue through a pregnancy poses all sorts of ethical issues. A key milestone for many is having a child but when a genetic issue becomes apparent it requires a challenging decision by the expecting parents. The dream of becoming parents with a healthy baby is shattered. Many life debilitating illnesses such as Alzheimer’s disease, Huntington’s disease, cystic fibrosis and Parkinson’s disease (to name a few) are known to have a genetic component. Gaining a diagnosis of a disease known to deteriorate one’s quality of life and premature death is a significant source of grief. Such grief is enhanced when one realises that their loved ones could also be affected if children or siblings have inherited the same gene.
Genetic science is a growing field of biology that studies genetics: basically how genetics are inherited, mutated, activated or inactivated. Professor Sultana Faradz of the Faculty of Medicine, Diponegoro University, Semarang, Indonesia is one such genetic scientist. Dedicating her life to genetics, she focused on identifying new genetic mutations and to providing education in this area. In the process of her work she uncovered genetic issues but was not authorised to clinically diagnose these conditions. As a young woman no medical doctor was trained and registered in Indonesia to diagnose these conditions.
Professor Faradz had to create a strong global network to find support and further assessment for the people who were in her studies who required further advice, education and counselling. As her work progressed, she realised how important education and counselling was and sought to find a solution to the gap in this area. Her solution was to use nurses in Indonesia to address this deficit. She was in for a fight to gain the approval to have these nurses trained and educated in genetic counselling in Indonesia. However, her foresight and determination lead to a small group of genetic nurses in this country. Indonesia was not the only country to consider nurses as ideally positioned and skilled to work as genetic nurses. Many countries have adapted the role of nursing to genetic nursing including but not limited to Australia, the United States of America, Finland and others.
The part that genetics play in cancer has become a major area for genetic nursing. Research has found that more than 50% of cancers involve a missing or damaged gene.
Genetic mutations, BRCA1 and BRCA2 increases a woman’s risk of developing hereditary breast or ovarian cancers and a man’s risk of developing hereditary prostate or breast cancer.
The part that genetics play in cancer has become a major area for genetic nursing. Research has found that more than 50% of cancers involve a missing or damaged gene. Genetic mutations, BRCA1 and BRCA2 increases a woman’s risk of developing hereditary breast or ovarian cancers and a man’s risk of developing hereditary prostate or breast cancer. Imagine your family being affected by this issue; perhaps you already have experienced this contemporary health challenge. Certainly, my family is an extreme case in this area. Both my husband’s sisters have had breast cancer. One sadly has passed. The other has survived but has since experienced the deadly ovarian cancer and after the miraculous recovery, then went on a few years later to develop spleen cancer. Family history was assessed to find that both grandmothers may have died from cancer.
Genetic assessment was suggested as there appeared to be a hereditary link. The living ‘sister’ undertook the assessment to find that her laboratory work returned with a positive result of one of the breast cancer genes. Her three daughters have all been tested with two out of three also showing positive. Her brother, my husband has been tested and yes, he is positive. The other sister who has passed also left a daughter who has tested positive and now one of her brothers has chosen to be tested as he has a daughter. Our daughter is about to be tested. It is possible that most of the women in the next generation have the same gene as their parents. This is a genetic picture of a high-risk family: meaning that a significant number of family members have inherited this particular cancer gene.
Other common illnesses also have a genetic component including heart disease, diabetes, Alzheimers disease, Heamophilia, Sickle Cell disease to name a few. Compounding this situation further is the bi-directional nature of some chronic illnesses: meaning that if you develop one illness you are at higher risk to develop a second illness.
For example, experiencing diabetes is a risk factor to develop heart disease and vice versa. As such, having a chronic illness is itself a risk factor for other ill-health. Genetics plays a key role in understanding risk factors. Some research evidence has found poor lifestyle behaviours may activate or inactivate a gene, resulting in the development of ill health. There is sufficient evidence that confirms the need of managing the increased risk when at risk genes are present. For some women who do carry BRCA1 or BRCA2 genes, a number of options are available including regular, more frequent screening; or surgical removal of body organs that are at risk of developing cancer such as undertaking a hysterectomy or bilateral mastectomy (or both surgeries).
In Australia you are unable to organise a genetic test until you have been engaged in genetic counselling. It was recommended that my whole family undertake genetic testing and therefore each individual family member would require genetic counselling. My husband was involved with genetic counselling by a genetic medical specialist who lacked interpersonal skills and therapeutic communication. I witnessed this engagement between my husband and the doctor and in my view, it was the poorest counselling I had ever seen. As a nurse and researcher, I set out to see if there was another way to improve the outcome for those who need to engage in this process. Innovation comes in many forms with one being new roles to address a contemporary need. Nurses are now filling this need by becoming genetic nurses.
Genetic nursing is an innovative new role which is yet to be embraced in all countries. For the Advanced Practice Nurse, the role as a genetic nurse also includes genetic counselling, facilitating genetic testing and interpret genetic test results and laboratory reports.
The knowledge of Registered Nurses makes them ideal to provide genetic and health education in this area. Yet, there is a long way to go before nurses are commonly undertaking the role of genetic counselling. A current debate is whether genetic counselling should be a core practice of all Registered Nurses or should be provided by Advanced Practice Nurses. Collaborating with Professor Fradaz from Indonesia and other colleagues, Barr set out to ask the question “what was the current practice for genetic counselling by nurses?” The purpose of the inquiry was to consider if genetic counselling could be included in all nurses’ scope of practice. Nurses encounter those with disability or illness continually. Yet, research shows that many people have never received genetic counselling or education. The findings of the inquiry by Barr et al. (2018) showed that nurses do engage in genetic counselling; however, this engagement is yet to be consistent. Currently, there is no consensus about the scope of practice for nurses in genetics. This limits the understanding of the role that nurses can play in this health area.
Still, this innovative role for Registered Nurses is important as nurses are widely available and have the necessary skills to undertake genetic education and counselling. As the article claims (Barr et al., 2018) nurses could make a significant contribution to those affected by genetic problems.