Reports

Continued from page 1 (The impetus and need for genetic counselling)

Scope of genetic counselling

A genetic counsellor is an individual trained in medical genetics and counselling to provide medical care for individuals or families affected by a medical condition. Genetic counsellors may not be medical officers, but they work along with clinical geneticists to provide care, support, risk evaluation and genetic investigation for their client or patient. A genetic counsellor is also an individual trained to deliver complex and technical information about genetic risks, testing, and diagnosis in a comprehensible manner to an individual or family. It is also their role to explain the significance of genetic conditions concerning cultural, personal, and familial contexts to their client. When providing further management, a genetic counsellor is someone who provides available options in a non-directive manner and can provide referrals to support groups and other health professionals to better assist their clients.

The essence of genetic counselling is to provide information to a client or patient about their health concerns that run in their family that may include a review of family history, health history, and pregnancy history. Although not all genetic counselling sessions will end up with genetic testing, but risk evaluation and surveillance can be offered to those at-risk families or individuals. Couples that have a concern with family planning may benefit from a genetic counselling session, to address their concern about factors that may affect the health of the baby or ability to conceive. These concerns may include known genetic condition inherited in the couple’s family, history of infertility, multiple miscarriage or stillbirth, or previous pregnancy or child affected by birth defect or genetic condition. With genetic counselling, the couple can get accurate information to assist their decision in family planning or referral to an assisted reproductive technology clinic. A pregnant mother can seek genetic counselling when the screening of the fetus is abnormal, to be assisted in the investigation of the fetus’ health condition, which may help with future management or evaluate recurrence risk.

Every individual may have a few unusual or abnormal features, but when multiple abnormal features are found in an individual, they may be affected by a genetic condition. Parents are especially concerned about their child when they receive abnormal newborn screening reports, the child appears to be dysmorphic, the child has some degree of intellectual disability or developmental delay, features of autism spectrum disorders and vision or hearing problems. Those concerns can be addressed by seeking genetic counselling to investigate the nature of the condition, whether it is hereditary or acquired. Genetic counselling services can benefit the adult individual as well because some genetic conditions may affect the individual later in life. Adults with a family history of medical condition that is of hereditary origin can seek genetic counselling to get support and information about the condition. Some of these conditions may include adult-onset muscular dystrophy or similar conditions, inherited neurodegenerative conditions, inherited blood disorders, familial hypercholesterolemia amongst others. Although most cancers are sporadic, some cancer cases can be clustered in a family. Adults with a strong family history of cancer can benefit from genetic counselling for risk evaluation.

Processes in genetic counselling

When a case is referred to a genetic counsellor or clinical geneticist, the investigation should start with a family pedigree and medical history intake. The role of the genetic counsellor here is to construct a pedigree of the proband via a questionnaire, by phone or in-person regarding both family and medical history. When the pedigree is constructed, the genetic counsellor will request and review pertinent medical records of the proband. For genetic conditions with dysmorphic features, photos of family members and proband at different ages will be requested if necessary. Before the proband is counselled, a genetic counsellor will gather the latest information on the investigated genetic condition by searching relevant medical and scientific literature on reference books or genetics databases such as GeneReview and OMIM. Genetic counselling is not complete without risk calculation. To perform a risk assessment, a genetic counsellor needs to know the genetic aetiology of the condition through their reading and evaluate the proband’s pedigree. If it is a hereditary condition, a genetic counsellor may need to calculate risk or provide empirical risk for the proband and other relevant family members.

The genetic counsellor needs to determine if genetic testing for the condition is available and indicated. If molecular genetic testing is available, genetic counsellors may need to explore the genetic testing options to strategise the genetic testing plan according to cost, turnaround time and reliability of the laboratory before laying the information to the proband. Other than genetic tests and counselling, a genetic counsellor may need to identify information about support and advocacy groups or resources for the condition if available. The proband’s investigation journey may end with the genetic counsellor but coping and living with the condition can last for a lifetime. National or support groups may improve the proband’s experience living with the condition. Brochures and fact sheets may be given by genetic counsellors to assist proband and their family members to understand and explain their condition better. Lastly, a genetic counsellor needs to formulate a clinic visit plan for the proband