Australian Family Physician October 2007 - Genetics in general practice
Vol 36, (10) 785–880
The theme for the October issue of AFP
is genetics in general practice. This month's articles include
pharmacogenomics, genetics and blood, family genetics, genetics and
preventive health care, population genetic screening, fighting disease
with fruit, physical activity promotion and sphygmomanometer
calibration.
Past, present and future
Carolyn O'Shea
Our genes link us to the past, present and future.
In this issue of Australian Family Physician we focus
on genetic issues, and how they relate to general
practice.
Letters to the editor
The opinions expressed by correspondents in this column are in no way endorsed by either the Editors or The Royal Australian College of General Practitioners
Management of haemachromatosis in general practice
Janice Charles, Graeme Miller, Christopher Harrison
Between April 2002 and March 2007, there were 439
consultations where haemachromatosis was managed,
occurring at about one in 1000 encounters. This
suggests that GPs manage haemachromatosis on
almost 100 000 occasions nationally each year.
Population genetic screening
Sylvia Metcalfe, Kristine Barlow-Stewart, Martin B Delatycki, Jon Emery
While advances in genetic testing have meant that
now more than 1000 gene tests are available,1 there are
still a limited number of genetic conditions included in
population based screening. Population based genetic
screening identifies individuals at risk of having, or
of passing on, a genetic condition. Screening may be
followed by more definitive genetic testing.
Family genetics
Kristine Barlow-Stewart, Clara Gaff, Jon Emery, Sylvia A Metcalfe
The shared nature of genetic information within
families means that the diagnosis of a genetic
condition or an inherited susceptibility in a family
member has implications for all blood relatives. The
increasing ability to analyse this genetic information
creates challenges and opportunities for doctors to
provide medical and psychosocial benefit to both
patients and their families. In this article, we consider
key practice issues relating to families and genetic
health in an Australian context.
Genetics and preventive health care
Jon Emery, Kristine Barlow-Stewart, Sylvia A Metcalfe, David Sullivan
With the mapping and sequencing of the human genome, knowledge about the genetics of common chronic diseases is growing rapidly. While the
'genetics revolution' still has some time before it has widespread impact on clinical practice, there
are several examples of how the application of new genetic knowledge may play a significant role in preventive health care.
Genetics and blood - Haemoglobinopathies and clotting disorders
Sylvia A Metcalfe, Kristine Barlow-Stewart, Janine Campbell, Jon Emery
Genetic conditions of the blood, which include the
haemoglobinopathies and clotting and bleeding
disorders, represent the most common of the
inherited disorders. This article is based on Genetics
in family medicine: the Australian handbook for
general practitioners. This resource also includes
patient information and reference to additional
sources of information.
Pharmacogenomics - The potential of genetically guided prescribing
Ajeet Singh, Jon Emery
Matching patients to effective tolerable medications can take months of trial and error. Genetic factors can strongly influence drug response. One of the potential clinical applications of the Human Genome Project is prediction of medication response - pharmacogenomics.
Children and autism - Part 2 - management with complementary medicines and dietary interventions
Manya Angley, Susan Semple, Cassie Hewton, Fiona Paterson, Ross McKinnon
The use of complementary and alternative medicine
(CAM) is increasing in the management of children
with chronic illness or disability. This is also evident
in autistic disorder (AD) which has complex aetiology.
A range of popular CAMs are also used in children
with autistic spectrum disorder (ASD) with the intent
to ameliorate the range of theorised biochemical
abnormalities. Another reason commonly cited by
caregivers for implementing CAM is that an autistic
child's behaviour and sensory status frequently results
in poor feeding behaviour and they have concerns about
nutritional deficiencies.
Research reveals that an extensive
The red eye in contact lens wearers - a high risk presentation
Brendan Cronin, Brian Todd, Graham Lee
The sore red eye is a common presentation
to both emergency departments and general
practitioners. While many of these presentations
can be well managed in a primary care environment,
in addition to the commonly recognised red flag
symptoms of photophobia and decreased visual
acuity, contact lens wearers are a subgroup that
must be identified and managed as high risk.
The existence of further risk factors for contact
lens associated keratitis, such as smoking, poor
compliance with contact lens hygiene protocols
and in particular, the use of lenses that are left in
overnight or worn for extended periods, should signal
an even greater urgency for immediate review by
an ophthalmologist.
Sphygmomanometer calibration - Why, how and how often?
Martin J Turner, Catherine Speechly, Noel Bignell
Hypertension is the most commonly managed problem
in general practice, accounting for 8.6% of encounters
and 7.9% of prescriptions. However, just under half the
cases in Australia are untreated. Frequent consequences
of hypertension are stroke and cardiovascular disease,
which caused 38% of all deaths in Australia in 2002. Hypertension in its early stages can be diagnosed only
by measurement of blood pressure (BP).
Nonpharmacological interventions for rheumatoid arthritis
Kelly Shaw, Jane Zochling, Tania Winzenberg
Rheumatoid arthritis (RA) is a chronic, systemic
autoimmune disease characterised by persistent
inflammation of synovial joints, often leading to joint
destruction and disability. The major goals of treatment
are to relieve pain, reduce inflammation, slow down
or stop joint damage, prevent disability, and preserve
or improve the patient's sense of wellbeing and ability
to function.
Learning disorders, dyslexia, and vision
Craig Wright
Learning disorders are common presenting complaints
to paediatric and other primary care services, learning
disorder clinics, and special education settings. Reasons
for learning failure in childhood include: intellectual
impairment, sensory deficits, emotional disturbances,
and socio-cultural opportunity. In addition, there is
a significant minority of children who present with
anomalies of development in reading, writing, and
mathematics. Of the learning disorders, dyslexia (or
specific reading disorder) is the most common, affecting
80% of all those identified as learning disabled.
Pigmented and thickened axillary folds
Warren Weightman, Patrick J Phillips
The most likely diagnosis is acanthosis nigricans (AN). Key
clinical features are pigmented areas (macules through to
patches and plaques) which may be 'velvety' and usually
symmetrical. The axilla is the most common site but you
would examine the posterior and lateral neck, groins and
other flexures such as submammary folds and umbilicus.
Rarely palms, soles and mucous membranes can be affected.
In early cases, causes of hyperpigmentation such as
drug induced or postinflammatory need to be considered. In
later cases where there is significant thickening, pigmented
seborrhoeic, keratoses or skin tags should be considered.
A failure to relax
Hamish Lachlan Philpott
Mr ST, a caucasian man aged 31 years, presented to hospital with weakness of his arms and legs. He felt unable to cope at home. Six weeks earlier, he sustained burns to his right hand, which
occurred while trying to remove the radiator cap from his car.
Clinical challenge
Questions for this month's clinical challenge are based on articles in this issue. The style and scope of questions is in keeping with the MCQ of the College Fellowship exam. The quiz is endorsed by the RACGP Quality Assurance and Continuing Professional Development Program and has been allocated 4 CPD points per issue. Answers to this clinical challenge will be published next month, and are available immediately following successful completion online.
AFP in Practice
AFP in Practice questions are designed to get you started in a small group learning (SGL) activity in your practice or with colleagues. Requirements to earn 30 Category 1 CPD points for a SGL activity are: minimum of four and a maximum of 10 people, minimum of 8 hours of discussion in a year, and at least two GPs. Groups may include anyone else who has an interest (ie. practice nurses, community health workers, allied health professionals). A kit with all the instructions and forms you need is available online. You can also earn Category 2 points based on these questions at AFP practice challenge.
Failure to diagnose: Addison disease
Sara Bird
On 11 May 2007, the State Coroner of Western Australia, made a number of recommendations regarding the recognition
of serious illnesses in a general practice setting, and the supervision of medical practitioners undertaking prevocational
training. The recommendations arose out of a Coronial Inquest into the death of a 16 year old patient from Addison
disease. This article discusses the case and the recommendations made by the coroner.
Fighting disease with fruit
Raymond Jones, Fiona Smith
Otitis media and chronic suppurative otitis media are common conditions in Aboriginal communities, and are associated with poor nutrition, overcrowding and passive smoking. This article reports on an extension of our nutrition program, which was first reported in Australian Family Physician under the title ‘Are there health benefits from improving basic nutrition in a remote Aboriginal community?’
Sex and the older man - GP perceptions and management
Catherine N Andrews, Leon Piterman
Despite the links between aging and sexual dysfunction, the majority of adults continue to be sexually active well into
their later years. Conditions such as erectile dysfunction however, present one of many obstacles to maintaining a
healthy sex life. Given the sensitive nature of sexual difficulties, many men are reluctant to seek medical advice. It is therefore essential that general practitioners are equipped to discuss and provide unbiased advice and treatment for men of all ages.
Physical activity promotion - Are GPs getting the message?
Hidde P van der Ploeg, Ben J Smith, Tony Stubbs, Philip Vita, Richard Holford, Adrian E Bauman
Physical inactivity is an important but under recognised risk factor for chronic disease. This study explored changes in
general practitioners' perceptions and practices in relation to addressing physical activity from 1997-2000.
What keeps Melbourne GPs satisfied in their jobs?
Kate Anne Walker, Marie Pirotta
Workforce shortages make it important to promote job satisfaction and career longevity in general practitioners. We
aimed to investigate strategies that maintain and improve Melbourne (Victoria) GP job satisfaction.
Share this on Facebook