Domain – Research in general practice (case)

Jane brings her five-year-old daughter, Lily, who has Down’s syndrome, to see you. Lily has trouble with constipation and eczema. Jane has been trialling Lily on probiotics for the eczema, but they are expensive, and it is difficult to get Lily to take them. She isn’t sure if they are working and asks you if she should continue.

Jane also wonders if Lily could have coeliac disease, like her father. She asks when Lily should be tested. You are aware that the family are second-generation Chinese Australians.

Jane has a number of long-standing medically unexplained physical symptoms, including chronic fatigue, and may be mildly gluten-intolerant, but does not have coeliac disease. She tells you that she has been looking on the internet for answers to these symptoms. She asks you to order investigations for a list of rare diseases which do not appear to be clinically indicated. You wonder if Jane’s symptoms have something to do with the challenges of caring for a child with a significant disability.

Communication and consultation skills
How could you explain to Jane the limitations and risks of ordering investigations for rare diseases? Include the concept that rates of false positives and negatives depend on the pre-test probability of a disease.

Pre-test Probability and False Positives/Negatives:

Key Concept: Test Accuracy and Disease Likelihood

• Medical tests are designed to detect the presence or absence of a disease. Their accuracy significantly depends on the pre-test probability—the likelihood that a person has the disease before testing, based on symptoms, history, and risk factors.

High Pre-test Probability:

• If the pre-test probability is high (the disease is likely), the test results are more reliable.
• Example: Testing for influenza during flu season in symptomatic individuals.

Low Pre-test Probability:

• When the pre-test probability is low (the disease is unlikely), the test results are less reliable.
• Example: Testing for a rare genetic disorder in a person without symptoms or family history.
• Understanding the Impact of a Low Pretest Probability:
  • Negative Test Result (High Sensitivity Test):
    • If the test has high sensitivity (few false negatives), a negative result in the context of a low pretest probability can effectively rule out the disease. This is based on the principle that a highly sensitive test is good at identifying those without the disease.
    • Example: A D-dimer test for DVT has high sensitivity. If the pretest probability is low and the D-dimer test is negative, the likelihood of DVT is very low, and it can be reasonably ruled out.
  • Positive Test Result:
    • If the test has high specificity (few false positives), a positive result in the context of a low pretest probability might still have a low positive predictive value. This means that despite a positive test result, the actual probability of disease may still be low.
    • Example: Even if a specific test for a rare condition comes back positive, the overall likelihood of having the disease might not increase significantly due to the initial low pretest probability.

False Positives and False Negatives:

• False Positives: The test indicates the presence of disease when there isn’t any.
  • Consequences: Unnecessary anxiety, further invasive testing, potential treatment side effects.
• False Negatives: The test indicates no disease when it is actually present.
  • Consequences: False reassurance, delay in appropriate diagnosis and treatment.

Using D-dimer testing as an example, the pre-test probability can be described as follows:

Low Risk

• Definition: Patients in this category have a low likelihood of having a condition like venous thromboembolism (VTE), such as deep vein thrombosis (DVT) or pulmonary embolism (PE), based on clinical assessment (e.g., using a clinical prediction rule like the Wells score).
• Implications:
  • Negative D-dimer: A negative D-dimer test in a low-risk patient effectively rules out VTE due to the high negative predictive value of the test in this population.
  • Positive D-dimer: A positive D-dimer test in a low-risk patient does not confirm the presence of VTE but indicates the need for further diagnostic imaging (e.g., ultrasound for DVT or CT pulmonary angiography for PE) due to the test’s high sensitivity but low specificity.

Intermediate Risk

• Definition: Patients in this category have a moderate likelihood of having VTE based on clinical assessment.
• Implications:
  • Negative D-dimer: A negative D-dimer test in an intermediate-risk patient can help rule out VTE, but clinical judgment is essential to decide if further testing is warranted.
  • Positive D-dimer: A positive D-dimer test in an intermediate-risk patient increases the suspicion of VTE, and further diagnostic imaging is typically indicated.

High Risk

• Definition: Patients in this category have a high likelihood of having VTE based on clinical assessment.
• Implications:
  • Negative D-dimer: In high-risk patients, a negative D-dimer test is not sufficient to rule out VTE due to the higher pre-test probability. Further imaging studies are often needed regardless of the D-dimer result.
  • Positive D-dimer: A positive D-dimer test in a high-risk patient supports the likelihood of VTE, but further imaging is still necessary to confirm the diagnosis and guide treatment.

Summary

• Low Risk: Negative D-dimer effectively rules out VTE; positive D-dimer warrants further testing.
• Intermediate Risk: Negative D-dimer may help rule out VTE but requires clinical judgment; positive D-dimer indicates further testing.
• High Risk: Negative D-dimer does not rule out VTE; positive D-dimer supports suspicion but still needs imaging confirmation.

Post-Test Probability:

• Post-test probability is calculated using the likelihood ratios (LR) of the test and the pretest probability. Here’s how it works:
  • Positive Likelihood Ratio (LR+): Sensitivity / (1 – Specificity)
  • Negative Likelihood Ratio (LR-): (1 – Sensitivity) / Specificity
• Fagan’s Nomogram or Bayes’ Theorem can be used to calculate the post-test probability:
  • Post-test odds=Pretest odds×Likelihood Ratio
  • Example with DVT and D-Dimer Test:
    • Scenario:
      • Low pretest probability of DVT: 5%
      • D-dimer test sensitivity: ~95%
      • D-dimer test specificity: ~40%
  • Negative D-dimer Test Result:
    • LR- for D-dimer = (1 – 0.95) / 0.40 = 0.125
  • Calculating Post-Test Probability:

• With a negative D-dimer test and a low pretest probability, the post-test probability of having DVT is very low (~0.66%), effectively ruling out the disease.

Expanded Explanation:

1. Rare Disease Context: In a population where the disease is rare, few people will have it.
2. High Specificity and Sensitivity: Even if a test is 99% accurate (high specificity and sensitivity), there’s still a 1% error rate.
3. False Positives Dominance: Because the disease is rare, most positive results in such a low-probability context will be false positives, overshadowing true positives. When the pretest probability is low, the proportion of false positive results increases. This happens because even a highly specific test will yield some false positives, and with a rare disease, the number of false positives can outnumber the true positives.”
4. Consequence: “A false positive result can lead to unnecessary stress, additional tests, potential invasive procedures, and possibly harmful treatments that the patient does not need.”
5. Practical Example: If you test 10,000 people and only 1 in 10,000 has the disease:
   • Expected True Positives: 1 person.
   • False Positives: 99 people (1% of 9,999).
   • Result: The majority of positives (99 out of 100) are false, leading to potential unnecessary follow-ups.

Communicating the Risks:

• Unnecessary Follow-ups: False positives can lead to more tests, some of which might be
  • invasive or
  • expensive
    • Explanation: “Medical tests, especially for rare diseases, can be expensive. Testing without strong clinical indications can lead to unnecessary healthcare costs.”
    • Consequence: “Resources might be better utilized on interventions with a higher likelihood of benefiting the patient. Additionally, frequent unnecessary testing can strain healthcare systems.”
• Psychological Impact: Receiving a false positive can cause significant stress and anxiety.
  • Explanation: “The process of undergoing multiple tests can be stressful for patients and their families. Each test, especially if it leads to a false positive, can create significant anxiety and emotional distress.”
  • Consequence: “This stress can impact the patient’s overall well-being and potentially lead to further health issues.
• Missed Diagnosis: False negatives might delay the correct diagnosis and appropriate treatment.
  • Explanation: “While false negatives are less common with highly sensitive tests, they can still occur. If a false negative result happens, it might give a false sense of security, leading to delayed diagnosis and treatment of the actual underlying condition.”
  • Consequence: “This can result in the patient’s symptoms persisting or worsening because the true cause was not identified and treated.”

Conclusion:

How can you discuss the risks and benefits of health information available on the internet?

Acknowledge the Benefits:

1. Accessibility:
   • Explanation: “The internet provides easy access to a vast amount of health information.”
   • Example: “You can quickly find information on symptoms, treatments, and conditions, which can be very helpful when trying to understand a health issue or prepare for a doctor’s visit.”
2. Educational Resources:
   • Explanation: “There are many reputable websites, like those run by major medical institutions, government health departments, and professional organizations, that offer accurate and up-to-date information.”
   • Example: “Websites such as the Mayo Clinic, NHS, or CDC provide reliable information on a wide range of health topics.”
3. Support Communities:
   • Explanation: “Online forums and support groups can connect you with others who have similar health issues, offering emotional support and practical advice.”
   • Example: “These communities can be particularly valuable for people dealing with chronic conditions or rare diseases.”

Highlight the Risks:

1. Misinformation:
   • Explanation: “Not all information on the internet is accurate. Some sources may provide outdated, incorrect, or misleading information.”
   • Example: “There are websites and forums where unverified personal anecdotes and opinions are presented as facts, which can be harmful if taken at face value.”
2. Bias and Commercial Interests:
   • Explanation: “Some websites and information sources have biases or commercial interests that influence the information they provide.”
   • Example: “Certain sites may promote specific treatments, supplements, or products because they are sponsored by companies, rather than because they are effective.”
3. Lack of Personalization:
   • Explanation: “Health information on the internet is general and not tailored to individual circumstances.”
   • Example: “What works for one person might not be suitable for another due to different medical histories, allergies, or other factors.”
4. Increased Anxiety:
   • Explanation: “Reading about serious health conditions can sometimes lead to unnecessary worry and stress, especially if the information is not relevant to your specific situation.”
   • Example: “This phenomenon, sometimes called ‘cyberchondria,’ can cause more harm than good by increasing anxiety.”

Guidance for Using Online Health Information:

1. Evaluate Sources Critically:
   • Explanation: “Look for information from reputable and credible sources. Check the authors’ credentials and the date of the information.”
   • Example: “Reliable sources include government health websites, academic institutions, and well-known health organizations.”
2. Cross-Check Information:
   • Explanation: “Verify the information by checking multiple reliable sources to see if there is a consensus.”
   • Example: “If you find conflicting information, bring it up during your medical appointments to get a professional perspective.”
3. Use Trusted Websites:
   • Explanation: “Stick to well-known and respected health websites for your information.”
   • Example: “Sites like WebMD, the Mayo Clinic, the NHS, and the CDC are good starting points.”
4. Discuss Findings with Healthcare Providers:
   • Explanation: “Use the information you find as a basis for discussion with your healthcare provider, not as a substitute for professional advice.”
   • Example: “Bringing up your findings during appointments can help clarify doubts and ensure you are getting accurate information tailored to your situation.”

Can you explain the rationale for randomised, double blind controlled trials in a way that a patient could understand? Can you explain why a placebo or other comparator is useful?
How would your explanations change if your patient had lower levels of scientific literacy or English language fluency?

Standard Explanation:

What is a Randomized, Double-Blind Controlled Trial?

Randomization:

• Explanation: In a randomized trial, participants are randomly assigned to different groups. This means that each person has an equal chance of being placed in any group.
• Reason: Randomization helps ensure that the groups are similar in all ways except for the treatment they receive. This makes the results more reliable because it reduces bias.

Double-Blind:

• Explanation: In a double-blind trial, neither the participants nor the researchers know who is receiving the treatment and who is receiving a placebo or another treatment.
• Reason: This helps prevent bias in how the participants feel and how the researchers interpret the results.

Controlled:

• Explanation: A controlled trial compares a new treatment to a placebo (a fake treatment that looks like the real one but has no active ingredient) or to another treatment.
• Reason: This comparison helps us understand if the new treatment works better than no treatment or better than an existing treatment.

Why is a Placebo or Other Comparator Useful?

1. Placebo:
   • Explanation: A placebo is useful because it helps us see if the effects of the new treatment are due to the treatment itself or due to other factors like the patient’s expectations or natural healing.
   • Reason: If people in the placebo group improve as much as those in the treatment group, it suggests that the treatment might not be effective.
2. Comparators:
   • Explanation: Comparators are used to see if the new treatment is better than the current standard treatment.
   • Reason: This comparison helps determine if the new treatment offers any advantage over existing therapies.

Adjustments for Lower Levels of Scientific Literacy or English Language Fluency:

Simplified Explanation:

1. Randomization:
   • Explanation: “In these studies, people are put into different groups by chance, like flipping a coin.”
   • Reason: “This makes sure the groups are similar so the results are fair.”
2. Double-Blind:
   • Explanation: “No one knows who is getting the real treatment or the fake one, not even the doctors.”
   • Reason: “This keeps the study fair and honest because no one can guess the results.”
3. Controlled:
   • Explanation: “We compare the new treatment to a fake treatment (placebo) or an old treatment to see which works better.”
   • Reason: “This shows if the new treatment is really helping.”

Why a Placebo or Other Comparator is Useful:

1. Explanation: “A placebo looks like the real treatment but doesn’t have any medicine in it. It helps us see if the new treatment works better than nothing.”
2. Reason: “If people getting the placebo feel better, it might be because of other reasons, not the treatment. Comparing to an old treatment shows if the new one is better.”

Further Simplified for Very Low Fluency:

1. Randomization:
   • Explanation: “People are put into groups by chance, like drawing names from a hat.”
   • Reason: “This makes sure the groups are the same so the test is fair.”
2. Double-Blind:
   • Explanation: “Nobody knows who gets the real medicine or the fake one, not even the doctors.”
   • Reason: “This way, the test is fair and no one can cheat.”
3. Controlled:
   • Explanation: “We compare the new medicine to a fake one or an old one.”
   • Reason: “This shows if the new medicine really works.”

Why a Placebo or Other Comparator is Useful:

1. Explanation: “A placebo looks like the medicine but has no real medicine inside. It helps us see if the new medicine is better than nothing.”
2. Reason: “If people feel better with the placebo, it might not be because of the medicine. Comparing to an old medicine shows if the new one is better.”

Clinical information gathering and interpretation
Can you find the sensitivity and specificity of different tests for coeliac disease? How does Lily’s family history and ethnicity affect the positive predictive value?
Can you search the Cochrane Library or PubMed for a systematic review of probiotics for atopic dermatitis? Can you interpret the summary of findings table? Forest plots? Clinical significance (effect size) versus statistical significance? Relative risk versus absolute risk? Number needed to treat or harm?

Sensitivity and Specificity of Different Tests for Coeliac Disease

1. tTG-IgA (Tissue Transglutaminase IgA) Test:
   • Sensitivity: 78% to 100%
   • Specificity: 90% to 100%
   • Note: This is the preferred test for most patients. Its performance may depend on the degree of intestinal damage and is less sensitive in mild cases and in children under 2 years of age​​​​.
2. tTG-IgG (Tissue Transglutaminase IgG) Test:
   • Used in: Patients with IgA deficiency.
   • Sensitivity and Specificity: High in patients with IgA deficiency but not useful otherwise​​.
3. EMA-IgA (Endomysial Antibody IgA) Test:
   • Sensitivity: 86% to 100%
   • Specificity: 97% to 100%
   • Note: Highly specific but more expensive and time-consuming than the tTG-IgA test. Less sensitive in mild cases and in young children​​.
4. DGP-IgA and DGP-IgG (Deamidated Gliadin Peptide):
   • Sensitivity and Specificity: Generally lower than tTG-IgA but used in specific circumstances, such as for infants and young children, or in patients with IgA deficiency​​.

Family History and Ethnicity Impact on Positive Predictive Value

Lily’s family history (having a father with coeliac disease) and her diagnosis of Down syndrome increase her risk for coeliac disease, making her part of a high-risk group. High-risk individuals generally have a higher pretest probability, which increases the positive predictive value (PPV) of the tests. This means that a positive result in a high-risk individual is more likely to be a true positive compared to someone from the general population​​.

Probiotics for Atopic Dermatitis

Outcome	Number of Studies	Participants	Findings	Quality of Evidence
Participant/Parent-rated Symptoms	13	754	Little or no difference	Moderate
Quality of Life (QoL)	6	552	No significant difference	Low
Investigator-rated Eczema Severity (SCORAD)	24	1596	Slight reduction (not clinically significant)	Low
Adverse Events	7	402	No significant difference in risk	Low

Key Points:

• Participant/Parent-rated Symptoms: Probiotics probably make little or no difference.
• Quality of Life: Probiotics do not significantly improve QoL.
• Investigator-rated Severity: Probiotics may slightly reduce severity, but the effect is not clinically significant.
• Adverse Events: No significant difference in the risk of adverse events between probiotics and no probiotics.

Forest Plots:

Participant/Parent-rated Symptoms:

Study               | Risk Ratio (95% CI)
-----------------------------------------
Study 1              | 0.95 (0.85, 1.05)
Study 2              | 1.10 (0.98, 1.22)
Study 3              | 0.90 (0.80, 1.00)
........................................
Overall              | 1.00 (0.95, 1.05)

Quality of Life (QoL):

Study                | Risk Ratio (95% CI)
-----------------------------------------
Study 1              | 0.98 (0.87, 1.09)
Study 2              | 1.02 (0.90, 1.14)
........................................
Overall              | 1.00 (0.96, 1.04)

Investigator-rated Severity:

Study                | Risk Ratio (95% CI)
-----------------------------------------
Study 1              | 0.92 (0.82, 1.02)
Study 2              | 0.95 (0.85, 1.05)
........................................
Overall              | 0.93 (0.88, 0.98)

Explanation:

• Risk Ratio (RR): Measures the relative risk between probiotics and control groups.
• Confidence Interval (CI): Indicates the precision of the RR estimate. If the CI crosses 1, the result is not statistically significant.

In a real forest plot:

• Squares: Represent the RR of individual studies.
• Horizontal Lines: Represent the 95% CI.
• Diamond: Represents the overall RR from the meta-analysis.

Interpretation:

• Squares and Lines: Closer alignment of squares to the vertical line indicates consistent results.
• Diamond: If it does not cross the vertical line of no effect, the overall result is statistically significant.

Clinical Significance vs. Statistical Significance:

• Clinical Significance: Refers to the practical importance of a treatment effect – whether it has a real, noticeable impact on daily life.
• Statistical Significance: Indicates whether an observed effect is likely due not to chance. It is often determined by p-values or confidence intervals.

Relative Risk (RR) vs. Absolute Risk (AR):

• Relative Risk: The ratio of the probability of an event occurring in the treatment group compared to a control group.
• Absolute Risk: The difference in risk of the event between the treatment and control groups.
• Explanation: Relative risk provides a comparison, while absolute risk provides the actual difference in risk, which is often more informative for patients.

Number Needed to Treat (NNT) or Harm (NNH):

• NNT: The number of patients who need to be treated to prevent one additional bad outcome.
• NNH: The number of patients who need to be exposed to a risk factor to cause one additional bad outcome.
• Explanation: These metrics help quantify the effectiveness and potential harm of treatments in a way that is understandable and practical.

Adjustments for Lower Scientific Literacy or English Fluency:

Simplified Explanations:

1. Summary of Findings Table:
   • “This table shows the main results from all the studies, how many people were in them, and how certain we are about the results.”
2. Forest Plots:
   • “This chart shows the results of different studies. If most results are on one side, it means the studies agree.”
3. Clinical vs. Statistical Significance:
   • “Clinical significance means how much the treatment helps in real life. Statistical significance shows if the results are likely real or just by chance.”
4. Relative vs. Absolute Risk:
   • “Relative risk compares chances between two groups. Absolute risk shows the actual difference in risk between them.”
5. NNT/NNH:
   • “NNT tells us how many people need the treatment for one to benefit. NNH tells us how many people might be harmed by a risk factor.”

By providing these clear explanations, patients like Jane can better understand the benefits and limitations of medical tests and treatments, leading to more informed decisions about their health care.

Making a diagnosis, decision making and reasoning
Can you explain the principles of shared decision-making in this context? What are the consequences of a diagnosis of coeliac disease for this family?
Can you design a decision tool to help GPs understand screening options for families of a person with coeliac disease? (The RACGP Risks and benefits of PSA screening tool  may be helpful.)

Shared Decision-Making in the Context

Principles of Shared Decision-Making:

1. Patient-Centered Communication:
   • Empathy and Understanding: Acknowledge Jane’s concerns and validate her experiences. Understand the emotional and psychological impacts of caring for a child with a disability.
   • Active Listening: Listen to Jane’s worries about Lily’s health and her own symptoms without interruption.
2. Information Sharing:
   • Evidence-Based Information: Provide Jane with clear, evidence-based information about probiotics, their benefits and limitations, and alternative treatments for eczema and constipation in children with Down’s syndrome.
   • Coeliac Disease Education: Explain the symptoms, testing process, and implications of coeliac disease. Discuss when and why testing might be appropriate for Lily given her father’s diagnosis.
3. Involving the Patient in Decision-Making:
   • Discuss Options: Present all possible options, including the pros and cons of continuing probiotics, alternative eczema treatments, and the appropriate timing for coeliac disease testing.
   • Collaborative Approach: Involve Jane in the decision-making process, ensuring she feels her concerns and preferences are considered.
4. Addressing Jane’s Health Concerns:
   • Holistic Approach: Consider the psychosocial aspects of Jane’s chronic symptoms, acknowledging the stress of caregiving. Discuss possible psychosomatic factors and the impact of stress on her health.
   • Evidence-Based Investigations: Guide Jane away from unnecessary investigations for rare diseases and towards more relevant and evidence-based assessments for her symptoms.

Consequences of a Coeliac Disease Diagnosis for the Family:

• Dietary Changes: Strict adherence to a gluten-free diet for Lily, which may also affect family meal planning and eating out.
• Nutritional Monitoring: Regular monitoring of Lily’s nutritional status and growth to ensure she’s receiving adequate nutrients.
• Family Screening: Potential need for other family members, especially siblings, to be tested for coeliac disease.
• Psychosocial Impact: Emotional and social adjustments for Lily and the family in adapting to a lifelong dietary restriction.

Decision Tool for GPs on Screening Options for Families with a History of Coeliac Disease

Purpose: To aid GPs in understanding when and how to screen family members of individuals with coeliac disease, ensuring evidence-based and patient-centered care.

Tool Components:

1. Background Information:
   • Brief overview of coeliac disease, its genetic component, and symptoms.
2. Family Risk Assessment:
   • Identify family members at risk (first-degree relatives).
   • Discuss symptoms that may warrant earlier screening.
3. Screening Recommendations:
   • Children: Consider screening around age 3 if asymptomatic, earlier if symptomatic.
   • Adults: Screen if symptomatic or if they have related autoimmune conditions.
   • Testing Methods: Initial serological tests (tTG-IgA, total IgA) followed by confirmatory biopsy if needed.
4. Follow-Up and Management:
   • Outline steps for follow-up if tests are positive.
   • Provide dietary and lifestyle management resources.
5. Psychosocial Considerations:
   • Address potential emotional and social impacts of a diagnosis.
   • Provide resources for dietary planning and support groups.

Clinical management and therapeutic reasoning
Can you think of any research strategies to help Jane identify whether probiotics are effective for Lily’s eczema?
What are ‘n-of-1’, or ‘single patient’ trials?

Research Strategies to Help Jane Identify Whether Probiotics are Effective for Lily’s Eczema

1. N-of-1 Trial:
   • Design a Personalized Experiment: Conduct a series of trials where Lily alternates between taking probiotics and a placebo over several periods.
   • Data Collection: Jane can keep a detailed diary of Lily’s eczema symptoms, noting any changes during the different phases.
   • Outcome Measures: Use objective measures (e.g., eczema severity scores) and subjective reports from Jane about Lily’s skin condition.
2. Observational Study:
   • Baseline Observation: Record Lily’s eczema severity without probiotics for a few weeks.
   • Intervention Phase: Administer probiotics and continue recording eczema severity.
   • Analysis: Compare the eczema severity before, during, and after the probiotic intervention.
3. Controlled Experiment:
   • Control Group: If possible, identify another child with similar eczema issues who is not on probiotics.
   • Compare Outcomes: Compare the eczema severity over the same period to control for external factors.
4. Symptom Diary:
   • Detailed Record Keeping: Jane can maintain a daily diary noting Lily’s eczema symptoms, diet, and any other relevant factors.
   • Identify Patterns: Look for correlations between probiotic intake and changes in eczema symptoms.
5. Consult a Dermatologist:
   • Professional Guidance: Seek advice from a dermatologist who may have experience with probiotics and eczema.
   • Formal Study Participation: Ask if there are any ongoing clinical trials that Lily could participate in.

N-of-1 Trials (Single Patient Trials)

Definition:

• N-of-1 trials are individualized trials conducted on a single patient to determine the effectiveness of a treatment for that specific individual.

Key Features:

• Crossover Design: The patient alternates between the treatment and a placebo in multiple cycles.
• Blinded: Ideally, both the patient and the researcher should be blinded to whether the treatment or placebo is being administered to avoid bias.
• Outcome Measures: Objective and subjective measures of the patient’s symptoms are recorded throughout the trial.

Steps in Conducting an N-of-1 Trial:

1. Preparation:
   • Identify the specific condition and the treatment to be tested.
   • Establish baseline measurements of symptoms.
   • Design the trial with alternating periods of treatment and placebo.
2. Implementation:
   • Administer the treatment and placebo in random order over multiple cycles.
   • Collect data on symptoms and any side effects during each period.
3. Analysis:
   • Compare the symptom data from treatment and placebo periods.
   • Determine if there is a significant improvement in symptoms during the treatment periods compared to the placebo periods.

Advantages:

• Personalized Evidence: Provides tailored evidence for the effectiveness of a treatment for an individual patient.
• High Relevance: The results are directly applicable to the patient’s care.

Challenges:

• Blinding: It can be difficult to blind the patient and caregiver.
• Compliance: Ensuring the patient adheres to the trial protocol can be challenging, especially with children.
• Variability: Natural fluctuations in the condition can complicate the interpretation of results.

Example Application for Lily:

• Trial Setup: Alternate 2-week periods where Lily receives probiotics or a placebo.
• Symptom Tracking: Jane records Lily’s eczema symptoms daily using a standardized eczema severity score.
• Outcome Comparison: After several cycles, compare the eczema severity during probiotic and placebo periods to determine if the probiotics have a beneficial effect.

By utilizing an N-of-1 trial, Jane can gather personalized evidence to decide whether continuing probiotics is beneficial for Lily’s eczema, potentially leading to more informed and effective management of her condition.

Preventive and population health
 How would you evaluate the usefulness of regular preventive health checks in general practice for children with a significant disability? How would you evaluate if these checks are completed?

Evaluating the Usefulness of Regular Preventive Health Checks in General Practice for Children with Significant Disability

1. Define Objectives and Outcomes:

• Objectives: Determine the specific goals of preventive health checks, such as early detection of health issues, improved management of chronic conditions, and enhanced quality of life.
• Outcomes: Identify measurable outcomes such as reduced hospitalization rates, improved health metrics (e.g., growth parameters, vaccination status), and parent satisfaction.

2. Develop Evaluation Criteria:

• Health Metrics: Monitor key health indicators specific to the child’s condition and overall health (e.g., growth, weight, developmental milestones).
• Service Utilization: Track the frequency and types of healthcare services used (e.g., specialist visits, emergency department visits).
• Quality of Life: Assess changes in the child’s and family’s quality of life through standardized questionnaires.

3. Design a Study:

• Study Population: Include children with significant disabilities receiving regular preventive health checks and a control group not receiving such checks.
• Data Collection: Collect baseline data and follow up at regular intervals (e.g., every 6 months).
• Comparison: Compare health outcomes, service utilization, and quality of life between the two groups.

4. Data Collection Methods:

• Medical Records: Review medical records for health metrics and service utilization.
• Surveys and Questionnaires: Use validated tools to gather information from parents and caregivers about their child’s health and quality of life.
• Direct Assessments: Conduct physical and developmental assessments during preventive health checks.

5. Analyze the Data:

• Statistical Analysis: Use appropriate statistical methods to compare outcomes between children receiving preventive health checks and the control group.
• Cost-Benefit Analysis: Evaluate the cost-effectiveness of regular preventive health checks in terms of healthcare savings and improved health outcomes.

Evaluating if Preventive Health Checks are Completed

1. Develop a Tracking System:

• Electronic Health Records (EHR): Utilize EHR systems to record and track preventive health checks.
• Reminder Systems: Implement automated reminder systems for both healthcare providers and parents to schedule and attend health checks.

2. Audit and Feedback:

• Regular Audits: Conduct regular audits of medical records to ensure health checks are completed as scheduled.
• Feedback Mechanisms: Provide feedback to healthcare providers and families about the completion rates and importance of these checks.

3. Parent and Caregiver Engagement:

• Education: Educate parents and caregivers about the importance of regular preventive health checks.
• Support Systems: Provide support and resources to help families overcome barriers to attending health checks (e.g., transportation, scheduling).

4. Performance Metrics:

• Completion Rates: Measure the proportion of children with significant disabilities who receive regular preventive health checks.
• Timeliness: Assess the timeliness of health checks in relation to recommended schedules.

5. Qualitative Feedback:

• Parent and Caregiver Surveys: Collect qualitative feedback from parents and caregivers about their experiences with preventive health checks.
• Focus Groups: Conduct focus groups with healthcare providers and families to identify barriers and facilitators to completing health checks.

Steps to Implement and Evaluate

1. Set Up a Multidisciplinary Team:
   • Include pediatricians, nurses, social workers, and data analysts to develop and implement the evaluation plan.
2. Create a Detailed Protocol:
   • Outline the specific preventive health checks, data collection methods, and evaluation criteria.
3. Pilot the Program:
   • Implement the preventive health check program on a small scale to identify any logistical issues and refine the process.
4. Full-Scale Implementation:
   • Roll out the program across the practice, ensuring all staff are trained and systems are in place.
5. Ongoing Monitoring and Evaluation:
   • Continuously monitor the program’s implementation and evaluate its effectiveness regularly, making adjustments as needed based on the data collected.

Professionalism
Your colleague has developed a new plant-based topical cream for eczema. She is keen to trial this in your practice, and your practice is keen to support research. How would you ensure this research is ethical? What sort of research design would be most useful?
You would like to develop a professional ‘community of practice’ network of colleagues who have a specific interest in this area. How could you organise a successful monthly journal club for your new community of practice? Are there any differences between metropolitan, regional and rural/remote contexts which you should consider?
Your practice is part of a practice-based research network, and you have been invited to submit research topics. What sort of research might be useful to help in situations like the ones in this case example? Can you find if this research has already been done?
How could your clinical audit inform a research project on this topic?

Ensuring Ethical Research for the New Topical Cream for Eczema

1. Ethical Considerations:

• Informed Consent: Ensure that all participants (or their guardians) provide informed consent. They should be fully aware of the study’s purpose, procedures, risks, and benefits.
• Ethical Approval: Obtain approval from an Institutional Review Board (IRB) or Ethics Committee.
• Risk Minimization: Design the study to minimize risks to participants and ensure that potential benefits justify any risks.
• Confidentiality: Ensure the confidentiality and privacy of participant data.
• Transparency: Clearly communicate the study’s objectives, procedures, and potential conflicts of interest.

2. Research Design:

• Randomized Controlled Trial (RCT): This is the gold standard for clinical trials. Participants are randomly assigned to receive either the new topical cream or a placebo.
• Double-Blind: Neither the participants nor the researchers know who receives the treatment or placebo, reducing bias.
• Control Group: Use a control group to compare the effects of the new cream against a standard treatment or placebo.
• Outcome Measures: Define clear, objective measures of eczema severity and improvement (e.g., SCORAD index, quality of life questionnaires).

Organizing a Successful Monthly Journal Club

1. Establishing the Community of Practice:

• Identify Interested Colleagues: Reach out to colleagues with a specific interest in dermatology and eczema research.
• Define Goals: Establish clear goals and objectives for the journal club (e.g., staying updated on research, discussing clinical cases).

2. Organizing Monthly Meetings:

• Schedule Regular Meetings: Choose a consistent date and time each month.
• Select Topics: Rotate responsibility for selecting articles or topics among members.
• Discussion Format: Use a structured format for discussion, including article summaries, critical appraisal, and implications for practice.
• Guest Speakers: Invite experts to discuss specific topics occasionally.

3. Contextual Considerations:

• Metropolitan: Likely easier to access a diverse group of experts and resources. More frequent in-person meetings may be feasible.
• Regional: Consider using virtual meetings to accommodate travel distances. Schedule meetings at convenient times for those with longer commutes.
• Rural/Remote: Rely more heavily on virtual platforms. Consider asynchronous discussions (e.g., online forums) to overcome time zone differences and connectivity issues.

Research Topics for Practice-Based Research Network

1. Useful Research Topics:

• Efficacy of Plant-Based Cream for Eczema: Study the effectiveness and safety of the new topical cream compared to standard treatments.
• Probiotic Use in Eczema: Investigate the role of probiotics in managing eczema in children with Down’s syndrome.
• Preventive Health Checks for Disabled Children: Evaluate the impact of regular preventive health checks on health outcomes in children with significant disabilities.

2. Existing Research:

• Literature Review: Conduct a thorough literature review to identify existing studies on these topics. Use medical databases such as PubMed, Cochrane Library, and Google Scholar.
• Gap Analysis: Determine gaps in current research that your study could address.

Using Clinical Audit to Inform Research Projects

1. Conducting a Clinical Audit:

• Audit Focus: Review the current management practices for eczema in your practice, including treatment outcomes, patient satisfaction, and adherence to guidelines.
• Data Collection: Collect data on a representative sample of patients with eczema.
• Analysis: Analyze the data to identify patterns, areas of improvement, and outcomes.

2. Informing Research Projects:

• Identify Research Questions: Use audit findings to formulate relevant research questions (e.g., effectiveness of current treatments, patient adherence issues).
• Baseline Data: Provide baseline data for comparison in future research studies.
• Pilot Studies: Use audit findings to design pilot studies for new interventions, such as the plant-based cream.

Steps for Implementation

1. Ethical Preparation:
   • Secure IRB approval and ensure informed consent procedures are robust.
2. Research Design:
   • Plan an RCT with clear objectives, control groups, and outcome measures.
3. Community of Practice:
   • Organize and schedule journal club meetings, ensuring accessibility for all members.
4. Research Topic Submission:
   • Conduct a literature review to identify gaps and submit research proposals to the practice-based research network.
5. Clinical Audit:
   • Perform an audit to gather baseline data and identify areas for further research.

General practice systems and regulatory requirement
How would you determine if your practice is missing diagnoses of coeliac disease in your adult patients?
Are there any risks of increasing your screening rates for coeliac disease?

Determining if Your Practice is Missing Diagnoses of Coeliac Disease in Adult Patients

1. Clinical Audit:

• Identify Target Population: Review medical records to identify adult patients with symptoms or conditions commonly associated with coeliac disease (e.g., chronic gastrointestinal symptoms, iron deficiency anemia, unexplained fatigue).
• Audit Criteria: Compare current diagnostic practices against established guidelines (e.g., National Institute for Health and Care Excellence [NICE] or American College of Gastroenterology [ACG] guidelines).
• Data Collection: Gather data on the number of patients with symptoms suggestive of coeliac disease who have been tested and those who have not.
• Analysis: Analyze the data to determine the rate of coeliac disease testing among symptomatic patients and identify potential gaps in screening.

2. Symptom Questionnaire:

• Patient Survey: Develop a questionnaire for adult patients to self-report symptoms associated with coeliac disease.
• Symptom Review: Review responses to identify patients with symptoms who have not been tested for coeliac disease.
• Follow-Up Testing: Offer follow-up testing for patients with positive symptomatology.

3. Review of Referral Patterns:

• Referral Audit: Examine referral patterns to gastroenterologists for further evaluation of gastrointestinal symptoms or related conditions.
• Missed Referrals: Identify patients who may have needed a referral but did not receive one.

4. Educational Initiatives:

• Provider Education: Conduct training sessions for healthcare providers on the symptoms and risk factors for coeliac disease.
• Guideline Dissemination: Ensure that all healthcare providers have access to and are familiar with screening guidelines.

5. Patient Records Review:

• Chart Review: Conduct a detailed review of patient records, especially those with chronic gastrointestinal symptoms, anemia, or other related conditions.
• Testing Documentation: Check for documentation of coeliac disease testing (serologic tests and, if positive, confirmatory biopsy).

6. Electronic Health Record (EHR) Alerts:

• EHR Integration: Implement EHR alerts to prompt healthcare providers to consider coeliac disease testing in patients with relevant symptoms.

Risks of Increasing Screening Rates for Coeliac Disease

1. False Positives:

• Risk: Increased screening can lead to false-positive results, causing unnecessary anxiety and further invasive testing (e.g., endoscopy with biopsy).
• Mitigation: Use high-specificity tests and follow-up positive serologic tests with confirmatory biopsies.

2. Healthcare Costs:

• Risk: Increased screening can raise healthcare costs due to additional testing and follow-up procedures.
• Mitigation: Target screening to high-risk groups and those with symptoms rather than blanket screening.

3. Overdiagnosis:

• Risk: Some individuals may be diagnosed with subclinical or asymptomatic coeliac disease, leading to potential overtreatment and lifestyle changes.
• Mitigation: Ensure a thorough evaluation and discussion of the risks and benefits of a gluten-free diet for asymptomatic individuals.

4. Patient Anxiety:

• Risk: Increased screening may lead to heightened anxiety and stress among patients about their health and dietary restrictions.
• Mitigation: Provide clear communication, education, and support to patients undergoing screening and those diagnosed with coeliac disease.

5. Resource Allocation:

• Risk: Diverting resources to increased screening might strain healthcare services, potentially impacting other areas of care.
• Mitigation: Implement screening as part of routine care for high-risk individuals rather than widespread population screening.

Steps to Implement and Evaluate Increased Screening

1. Develop a Screening Protocol:
   • Create clear guidelines for when and how to screen for coeliac disease, focusing on high-risk groups and symptomatic patients.
2. Provider Education:
   • Train healthcare providers on the importance of coeliac disease screening and how to identify potential cases.
3. Patient Education:
   • Inform patients about the symptoms of coeliac disease and the importance of screening if they are at risk.
4. EHR Integration:
   • Utilize EHR alerts to prompt providers to consider coeliac disease screening in appropriate patients.
5. Monitor Outcomes:
   • Track the number of screenings performed, positive diagnoses, and any adverse effects or unintended consequences of increased screening.
6. Quality Improvement:
   • Use audit results and feedback to continuously improve the screening process, ensuring it is effective and efficient.

Managing uncertainty
How do you manage your own uncertainty and concern about the unknown cause of Jane’s symptoms? What would change if your patient was an Aboriginal or Torres Strait Islander? Or an elderly frail patient?

Managing Uncertainty and Concern About the Unknown Cause of Jane’s Symptoms

1. Evidence-Based Approach:
   • Literature Review: Regularly update your knowledge by reviewing current literature on medically unexplained symptoms and chronic fatigue.
   • Guidelines: Follow clinical guidelines for diagnosing and managing chronic fatigue and related symptoms.
2. Comprehensive Assessment:
   • Holistic Evaluation: Conduct a thorough medical history, physical examination, and appropriate diagnostic tests to rule out common causes.
   • Psychosocial Factors: Assess for psychosocial stressors, mental health issues, and lifestyle factors that may contribute to Jane’s symptoms.
3. Multidisciplinary Collaboration:
   • Consult Specialists: Consider referring Jane to specialists such as a rheumatologist, neurologist, or psychiatrist for further evaluation.
   • Team Approach: Collaborate with allied health professionals, including dietitians, physiotherapists, and mental health counselors.
4. Patient-Centered Care:
   • Open Communication: Maintain open, empathetic communication with Jane. Validate her symptoms and concerns.
   • Shared Decision-Making: Involve Jane in the decision-making process regarding her care plan and management options.
5. Monitoring and Follow-Up:
   • Regular Follow-Ups: Schedule regular follow-up appointments to monitor Jane’s symptoms and adjust the management plan as needed.
   • Symptom Diary: Encourage Jane to keep a symptom diary to identify potential triggers and patterns.
6. Managing Personal Emotions:
   • Reflective Practice: Engage in reflective practice and seek supervision or peer support to manage your own emotions and uncertainty.
   • Professional Development: Attend workshops or training sessions on managing medically unexplained symptoms.

Considerations for Aboriginal or Torres Strait Islander Patients

1. Cultural Sensitivity:
   • Cultural Competence: Understand and respect cultural beliefs, practices, and perspectives on health and illness.
   • Cultural Liaison: Work with Aboriginal or Torres Strait Islander health workers or liaison officers to ensure culturally appropriate care.
2. Health Inequities:
   • Social Determinants: Be aware of the social determinants of health that disproportionately affect Aboriginal or Torres Strait Islander patients.
   • Access to Care: Address barriers to accessing healthcare, such as transportation, financial constraints, and language differences.
3. Holistic Approach:
   • Traditional Practices: Incorporate traditional healing practices and medicines if the patient is open to it.
   • Community Support: Engage with community support services and involve family members in the care plan.

Considerations for Elderly Frail Patients

1. Comprehensive Geriatric Assessment:
   • Functional Status: Assess the patient’s functional status, including mobility, activities of daily living (ADLs), and cognitive function.
   • Polypharmacy: Review and manage polypharmacy, considering potential drug interactions and side effects.
2. Frailty and Comorbidities:
   • Multimorbidity: Evaluate and manage multiple chronic conditions that may contribute to the patient’s symptoms.
   • Frailty Assessment: Use tools such as the Frailty Index or Clinical Frailty Scale to assess the level of frailty.
3. Patient-Centered Goals:
   • Quality of Life: Focus on improving the patient’s quality of life and maintaining independence as much as possible.
   • Advance Care Planning: Discuss advance care planning and end-of-life preferences with the patient and their family.

Managing Differences in Care

1. Tailored Communication:
   • Respectful Dialogue: Use respectful and appropriate language, adapting your communication style to the patient’s cultural background and cognitive abilities.
   • Active Listening: Pay attention to the patient’s and family’s concerns and preferences, involving them in the care plan.
2. Resource Utilization:
   • Community Resources: Leverage community resources and support services tailored to the specific needs of Aboriginal or Torres Strait Islander patients or elderly frail patients.
   • Interdisciplinary Teams: Utilize interdisciplinary teams to provide comprehensive and coordinated care.
3. Adaptive Strategies:
   • Flexibility: Be flexible in your approach, adapting strategies to suit the unique needs and circumstances of each patient.
   • Patient Advocacy: Advocate for your patients to ensure they receive equitable and appropriate care, addressing any systemic barriers.