Clinical Family History

The family history has been regarded as the keystone of the clinical genetics assessment tool. Traditionally, clinical family history focuses on Mendelian single gene disorders, however it is also possible to trace multifactorial conditions. These conditions appear in multiple generations, but are the result of combinations of different genes and environmental factors and are are common within the population. Multifactorial common diseases include those such as heart disease, type 2 diabetes, and hypertension. Knowledge of such health conditions that are running in the family can help physicians provide more effective care, including interventions to reduce risk, such as dietary and behavioural changes or annual screening. Whilst knowledge

Tools have been provided in order to simplify and reduce the time that it takes to gather family health history by giving control to the public in a format that is clear and accessible. A secure, interactive web-based tool (http://www.hhs.gov/familyhistory) has been developed to help with the collection, organisation and maintenance of family health history information. This software allows individuals to create a family tree, whilst giving options to also input disease options, including breast, ovarian and colon cancers, stroke, diabetes and coronary heart disease. Because the tool is easily accessible, albeit for PC users, individuals can maintain their family history from within their own homes and over a long time span. This can allow for more accurate information which is maintained and updated as appropriate. National Family History Day is now an annual event which coincides with Thanksgiving, a time when many families get together to celebrate, a time when families can talk about their health and share information amongst each other. There are some concerns, however, in terms of breaches of security of the on-line system and how this may be used in a potentially discriminatory

In Pate v Threlkel (1995), the plaintiff sued her mother’s doctor claiming that he knew, or should have known, of the inheritable nature of the medullary thyroid carcinoma which her mother had been diagnosed and treated for, that he had a duty to warn her mother that her children should be tested, and had she been warned, the mother would have recommended her children been tested. If the plaintiff had been tested, she would have taken preventive measures to treat her disease. The court addressed two questions 1) whether Threlkel owed a duty to the mother to warn her of the hereditary nature of the disease and 2) if such a duty existed, does the duty to warn run to anyone other than the patient. The court found that the physician’s duty to warn extended to the patient’s offspring, however this did not require that the physician should warn them himself, but should do so by notifying the patient so as not to contradict privacy laws. A year later the Safer v Estate of Pack case stated that the duty to warn could not always be satisfied by only informing the patient of the heritability of the disease. Following these cases, the American Society of Human Genetics (ASHG) published a two-step policy of disclosure, with the patient informed of the genetic implications of the disease before and after testing, but also allowing the clinical to use discretion to notify