Providing information and support to families affected by genetic disorders and at risk for them is the role of genetic counselors as members of the healthcare team. In addition to providing information about genetic disorders to other health care professionals and patients, they also serve as a resource for the general public. Genetic counselors use their expertise to educate patients and identify people/families at risk of genetic disorders. This chapter provides an overview of their role. A patient resource section is also provided.

A genetic counselor’s role.

Genetic counselors gather and analyze family history and inheritance patterns to identify people at risk of genetic disorders and calculate their chances of recurrence. In addition to providing information about genetic testing, they also offer related services. In addition to presenting complex and difficult-to-understand information about genetic risks, testing, and diagnosis, they are also trained to help patients and families make sense of the information. The role of genetic counselors in helping families understand the significance of genetic conditions in the context of their cultural, personal, and familial context is crucial. Furthermore, they are able to provide referrals to educational services, advocacy groups, community or state services, and other health professionals. The genetic counselor can be a valuable resource for other healthcare professionals, patients, and the general public regarding genetic conditions.

Genetic Counseling Process

Generally, genetic counseling sessions aim to:
• Understand the genetic condition and the options for managing it, including the risks and benefits of further testing
• Determine the psychosocial tools the individual and family need to cope with the potential outcomes
• Anxiety in the family can be reduced
At a minimum, you should expect to have a pre-testing session followed by a post-testing session. A genetic counselor determines why a patient/family is seeking genetic counseling, defines the information they wish to obtain, collects and records the patient’s family medical history, and assesses and records the patient’s medical and psychosocial history.
Patients may discuss the clinical presentation of the condition(s) they may be at risk for, the pattern of genetic inheritance of the condition, the chance that the condition will recur, available testing methods, testing limitations, reproductive options, and follow-up procedures, if necessary, during a pre-testing session. There is also an opportunity for general questions about the suggested treatment or therapy. Occasionally, specialists may be referred to address specific issues outside the scope of genetic counseling.
Patients often communicate their genetic testing results to the genetic counselor after undergoing genetic testing. Often, post-test sessions go beyond simply supplying medical information and focus on helping families cope with emotions, psychological effects, medical consequences, social problems, and economic implications. A variety of psychological issues are discussed, including denial, anxiety, anger, grief, guilt, and blame, and if necessary, referrals are made for in-depth psychosocial counseling. It is possible to provide the patient/family with information about community resources and support groups.
Testing may be considered for additional relatives of the individual if the genetic test is positive. There may be a discussion of genetic counseling referrals for other family members for risk assessment. Genetic counselors may need to refer relatives to other genetic counselors due to geographical restrictions.
Following the final genetic counseling session, a written summary of the major topics discussed may be provided to the patient. It is often provided as a letter that serves as a permanent record of the information discussed and can include additional information obtained after the last counseling session. Patients may share their letters with family members and healthcare providers.

Education of patients

In order to get the information they need about their condition, many patients rely heavily on their primary healthcare providers. It is generally the case, however, that patients need information that providers may not have. Any educational materials should be produced by a reliable source before being provided to patients.
The majority of patients, even those who are well versed in the internet, enjoy reading books and pamphlets. Information from patient advocacy groups is generally the most accurate and up-to-date. Patients can find excellent information about genetic diseases on the following page by contacting the organizations listed.

By Manali