A family history can be recorded using a family history questionnaire or by drawing a ‘family tree’ or ‘pedigree’ (Figure 20.17). This can either be done on paper or using specialist computer programs designed to collect family history information (Bennett et al. [11]). The patient's family history is an important tool in determining the likelihood of an inherited cancer predisposition in the patient and their family. Where an inherited cancer predisposition is suspected a referral to a genetics unit would be indicated.

Patients are given a family history questionnaire to complete by the genetics team, ideally ahead of their genetics appointments. Information from this questionnaire is recorded on a pedigree and further details about the family history are recorded on the pedigree at the genetics appointment. The patient is asked to provide information about their relatives’ names, dates of birth, dates of death and cancer or other significant medical history, and this information is recorded on the pedigree. The genetics team may also ask the patient to provide copies of death certificates or ask relatives to provide written consent to access their medical records (Bennett et al. [11]).

Patients seen in the cancer genetic clinic are offered information about their cancer risks and presented with options for genetic testing and/or risk management strategies, if appropriate. The genetics team works with the patient to help them make autonomous choices and to adjust to their genetic risk. This communication process may take place over several appointments over several months or consist of one or two appointments. It is important to tailor information to a specific client's personal situation by listening to and acknowledging an individual's prior experience, recognizing that ethnicity, culture, religion and ethical perspectives may influence their ability to utilize information and services. Communication strategies need to be adapted in relation to the individual's level of understanding of genetic issues (Middleton et al. [98]).

When speaking to a patient about a cancer genetic referral, explain the reason for the referral and outline what can be expected at the appointment. Patients may be unaware of the benefits of a referral or that a genetic assessment may have significant implications for their relatives. Before a patient is offered genetic testing they will be provided with information about the condition, the chance of a positive result and the implications of a positive result both for themselves and for their family.

It is imperative that any referral is discussed with the patient and they agree to the referral. The genetic testing, which is obtained via a blood test, may be offered as part of the risk assessment undertaken at the appointment. However it is not always indicated. The results may take several weeks to process depending on the type of genetic test. Genetics centres will usually accept a referral from any healthcare professional. It does not have to be from the GP or consultant. However, it is good practice to discuss the referral with the treating team, and document it in the patient notes. When making a referral the following information should be supplied:

Contact details of the regional genetic services in the UK are available on the British Society for Genetic Medicine website. Each centre's website has referral criteria details and contact details for queries prior to referral (British Society of Genetic Medicine [21]).

It is likely that more germline genetic testing will be offered directly through oncology clinics as well as genetics clinics. Genetic testing is more likely to be offered at the time of a cancer diagnosis as information about a germline mutation in a cancer predisposition gene can be useful in planning cancer treatment including surgery and chemotherapy (George et al. [53]).

The genetic tests offered are likely to change in the future. Patients are currently offered testing for specific ‘high‐risk’ genes only. Genetic technology has improved significantly and it is now faster and easier to screen patients for mutations in many genes at once, rather than one gene at a time. These multigene tests are often called ‘panel tests’. Panel tests may include numerous high‐ and moderate‐risk genes that may contribute to cancer risks (Hall et al. [60], Selkirk et al. [146]).

Although it is now possible to generate a lot of genetic data using these approaches, it is important that the clinical utility (whether the gene test provides useful information about diagnosis, treatment, management or prevention of a disease) and clinical validity (whether the genetic variant is clearly linked to the presence, absence or risk of a specific disease) of such tests are determined (Easton et al. [40]). For example, the clinical validity and utility of all the genes included in a panel test need to be clearly defined so that the results of the panel test can be accurately interpreted (Hall et al. [60], Selkirk et al. [146]). Germline and tumour genetic information will become a key feature in the management of oncology patients in the future as new tests and treatments are developed.