Medical genetic services started 10 years ago in Malaysia. Currently, there are five health centres (1 public hospital, 3 university hospitals and 1 private hospital) which provide medical genetic services in the health care system. Two senior clinical geneticists from the public hospital provide genetic service as an outreach service to five other public hospitals in different states in Malaysia.
The Genetic Department was established in Hospital Kuala Lumpur (HKL) in 2009. This department is staffed with 7 clinical geneticists. Referrals are received from all over the nation, including emergency management of inborn errors of metabolism. Apart from in-patient care, day care service for patients undergoing enzyme replacement therapy is also provided. The centre also runs several special rare disease multidisciplinary clinics such as Marfan Syndrome, Cancer Genetic, Prader Willi Syndrome, Tuberous Sclerosis and Neurogenetic Clinic. Our total scheduled clinic consultation visits for 2016 were 3731, showing an increase compared to previous years. This included the patients who were admitted to our ward and walk-in visits. Other than that; we do have our own pharmacy and genetic and molecular laboratories which, with their expertise in genetic services, are greatly able to assist us in the management of our patients.
Roles of a Genetic Counsellor
There are no genetic counsellor posts in the public health care system. Over the years, there are several trained genetic counsellors working in that capacity in various university hospitals. In HKL, there are currently 3 qualified nurses, including myself, undergoing training to take up the role of a genetic counsellor.
In many families with rare diseases, coping with the disease is a challenge. In genetic clinic, we take and analyse pedigree information and we provide genetic risk information to patient and family members. There will be a lot of genetic information which is difficult to understand and to deal with. Some diagnoses have devastating prognosis and parents find it difficult to cope while some involve multiple systems and are difficult to manage. They often require lifelong follow ups and frequent hospital visits. Apart from information, they also need emotional support. Provision of information and emotional support may empower families with genetic diseases to cope with all the associated challenges. It also eases them in the acceptance process of their child’s disease. Support for families with genetic diseases come in many forms, including phone calls, impromptu visit when the child hospitalized due to some medical problems or planned surgical procedure.
The emotional burden in patient and family with genetic diseases can be tremendous when it comes to reproductive choices. We constantly endeavour to reduce patient anxiety by supporting parents throughout prenatal diagnosis, in particular making sure the logistic prenatal test is coordinated smoothly and results are disclosed as scheduled. Our support continues after termination of pregnancy to make sure parents are coping with the difficult decision.
In cancer genetic clinics, one of the crucial role of genetic counsellor is to ensure adequate information is obtained by arranging pre clinic logistics like sending out questionnaire on family history and coordinating clinic appointment to suit patient’s need. Though not ideal, some patients prefer to coincide their genetic counselling session with their chemotherapy session because of geographical distance. During this time frame, patients often require much emotional support to cope, not only with their disease but the complicated genetic information. I often drop in at the ward to find out how they are coping with the treatment. Patients and parents often shared that they felt supported when we visited or gave them a call.
As we have many specialized genetic clinics, we often take up the role as the coordinator of those clinics. In the past I have coordinated Marfan clinic, which was run based on a care pathway so it could be ensured that patients with such multisystemic involvement get optimal care.
In addition, we introduce patient and family to patient support groups. In Malaysia, there are several patient support groups such as Malaysia Lysosomal Disease Association (MLDA), Malaysia Metabolic Society (MMS) and Malaysian Rare Disorders Society (MRDS) to cater to patient with a wide range of rare diseases. Involvement of patients and parents in patient support groups will be a platform for them to garner more information and psychosocial support. Sharing of different experiences and encouragement from other parents will help patients and parents in handling their disease or child’s disease. . It also helps them feel supported and less alone. Apart from information and psychosocial support, they can apply for medical equipment support such as portable suction machine through the patient support group. We also support the activities organized by patient support groups such as Rare Disease Day celebration or charity dinner. Sometimes, we take the initiative to organize beneficial activities such as Prader Willi Syndrome (PWS) camp, which was well received.
Genetic tests are available mainly in the Institute of Medical Research. A limited number of tests are also available in HKL as well as University labs. The rest needs to be outsourced to overseas labs. We also collaborated with a number of overseas research labs. As a genetic counsellor, I help to arrange for the test that is required. In the process of sending sample to overseas or private laboratories, coordination is important to avoid delay and to comply with custom requirements. Tracking of test results, especially in cancer genetic clinic, falls on genetic counsellor’s shoulders.
The first training programmes ie Master of Genetic Counselling has started in National University of Malaysia in 2015 with 2 students and the number of candidates has increased to 10 students in the subsequent year. This program is aimed to locally train paramedics, nurses and science officers who are interested to become genetic counsellors. Although this is encouraging, currently, there are still no official post for genetic counsellors in public health care system in Malaysia. I hope the official post and career pathway will be available soon for those of us who are trained to become genetic counsellor.
The demand for genetic counselling services is expected to increase in coming years. Most genetic diseases are rare diseases. Individually, they are rare. As a group, rare diseases affect about 5% – 8% of our population. Many countries have established national plan and strategy to combat rare diseases. It is hope that the Malaysia government will acknowledge the importance of genetic disease in public health system by nurturing manpower for genetic counselling. In addition, adequate funding should be provided for some frequently requested locally done genetic tests. This will improve cost-effectiveness and shorten the time needed to establish diagnosis. Research and development in genetic is important to discover new treatment and diagnostic test for patients with rare diseases. Although we are involved in a number of researches, they are mostly based in overseas. I hope there will be more support locally to prioritize research in this area.
Policy maker also need to look at the impact of rare disease in our population and implement policies to support patient and families. Last but not least, the public’s and health care providers’ awareness about genetic diseases will be helpful to ease the burden of these diseases on those affected.
About the Author
Ms Sasikala Munian
I received my Diploma in Nursing from the College of Nursing Kuala Lumpur in 2004, Certificate in Pre-Anaesthesia from the College of Allied Science Sungai Buloh in 2009 and Bachelor of Nursing with Honours from the National University of Malaysia in 2014. Currently, I’m pursuing my Master Medical Science (Genetic Counselling) at the National University of Malaysia, which I am scheduled to complete in 2019.
I worked as a General Anaesthesia Nurse in the Paediatric Operation Theatre Hospital Kuala Lumpur for 11 years. In 2015, I joined the genetic team in Hospital Kuala Lumpur to train as a genetic counsellor. I am also a member of several associations; namely the Malayan Nurses Union (MNU), Malaysia Lysosomal Diseases Association (MLDA), Malaysian Rare Disease Society (MRDS) and Malaysia Metabolic Society (MMS). Besides my daily clinical duties, I am also a clinical preceptor for nursing student from International Medical University (IMU). Furthermore, I am keen in research and have previously completed a study on the Needs of Family Members of Critically Ill Patients in a Critical Care Unit of a Tertiary Hospital in 2013.
As for now I am also the coordinator for our cancer genetics clinic in Hospital Kuala Lumpur. My passion is in providing genetic counselling services to patients and their family members to help them to better understand their condition, gain acceptance and achieve a better quality of life.