Dianne Rees's List: teaching genetics

• Core genetics topics for GPs were identified, prioritised, and developed into competency statements
• A minimum of 1 in 10 patients seen in primary care is reported to have a disorder with a genetic component.
• a majority of responders believed genetics was important, but felt under-prepared because of low levels of genetic education

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• Includes a suggested curriculum - Dianne Rees on 2010-06-29

• need to raise awareness of genetic conditions and services
• new roles, new patient pathways and new ways of workin
• Assessing and demonstrating the need to incorporate genetics into mainstream medical specialties was identified as a major issue b
• need for support tools such as referral pathways, guidelines, trigger lists and protocols
• "Theory is great but being able to practice in your own setting is very different."
• devote time and energy to understanding the existing culture of the specialty and of the practitioners' professions.
• "The main barriers to mainstreaming continue to be the lack of appreciation of the genetic contribution to the management of complex multi-system disorders in non-genetic specialties." (Report)
• Communicating information about genetic services using clear language and not assuming prior knowledge were therefore vital.
• A culture of stigma or secrecy surrounding genetic conditions within the community
• "It is important to explore the range of beliefs and attitudes within the ... community about genetics and the genetic service." (Report)
• More genetic tests are becoming available for disorders in many specialties. For example, more than 50 inherited cardiovascular conditions have now been recognised and genetic tests are available for some of the more common (e.g. familial hypercholesterolaemia) as well as some of the rarer conditions [17].

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• • Although geared for younger audiences, provides background useful for health professionals who may need review
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• My Gene Profile has now created a reputable looking front-end which contrasts to their original flaky website featuring a mohican baby. They are based in Singapore, but list offices in the UK (Haslemere) and US (Connecticut).
• caveats, subtleties and statistics that hang off each data point?

• As genetic and genomic technology evolves and knowledge of cancer genomics expands, healthcare providers must respond by informing people with cancer, their families, and the public about the implications of these developments for cancer prevention and risk reduction, early detection, and treatment

• The ability to identify high-risk individuals who may benefit from cancer prevention and early cancer detection strategies can improve their length and quality of life
• The standard of care in cancer predisposition genetic testing includes comprehensive risk assessment and evaluation, thorough discussion of cancer risk management options, informed consent, pre- and post-test counseling, and follow-up by qualified healthcare providers (Tranin, Masny, & Jenkins, 2003).
• Ethical principles of doing good, doing no harm, respect for autonomy, and justice form the ethical foundation of cancer risk testing and counseling services.
• (Lashley, 2006; Williams, Skirton, & Masny, 2006).
• Comprehensive cancer genetic counseling is provided in a manner consistent with an individual's cultural and healthcare beliefs.
• Ongoing education of healthcare providers, individuals at increased risk, and the lay public is developed, evaluated, and disseminated.

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• All felt inadequately equipped to deal  with enquiries regarding family history and cancer risk from patients and staff.

• Since most physicians lack the experience to decide which of their patients should receive certain pharmacogenetic tests
• According to Newcomer, the limited ability of physicians to determine which patients should receive certain genetic tests often compromises the value proposition of pharmacogenetically guided medicine — even if the diagnostic is shown to be clinically useful and analytically sound
• UnitedHealthcare's analysis has revealed that at one point as many as one out of three women received the wrong treatment due to doctors' misinterpretation of HER-2 testing results. "There were between 200 and 300 different ways of reporting HER-2 test results," Newcomer said. "There is no standardization for reporting results."

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• physicians should   become knowledgeable about the appropriate use of these   tests, in the context of patient selection, the information   gained from such tests, management of clinical risk   for cancer and the need for effective pre- and post-test   patient counseling