Clinical Genetics

New Clinical Genetics curriculum – 2027

We’re implementing a new curriculum for Advanced Training in Clinical Genetics. Trainees starting the program in or after 2027 will follow the new curriculum.

Visit the new curriculum page for more details, including changes to the learning, teaching and assessment (LTA) program requirements.

If you started training in 2026 or earlier, you’ll continue under the PREP curriculum and its current requirements.

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Program
overview
Apply
or re-register
Training
requirements
Forms and
resources

Program overview

In Advanced Training in Clinical Genetics, you’ll explore in-depth specialty training in the identification of the genetic mutations that lead to disease processes and the management of patients throughout life. You will train under supervision and prepare for independent practice as a consultant. The program builds your skills through work-based learning and assessments tools.

Program updates

The Advanced Training in Clinical Genetics Program is evaluated biennially by the Training Program Committee (TPC) – Clinical Genetics to ensure that it’s in line with educational best practice. Changes in program requirements may occur and could impact your training plan. You must ensure you’re following the correct requirements during your training.

Entry requirements

Prospective trainees must have:

completed RACP Basic Training, including Written and Clinical Examinations
a current medical registration
been appointed to an appropriate Advanced Training position

New and current trainees need to apply for Advanced Training each year.

Duration

Advanced Training in Clinical Genetics requires 3 years (36 months) of full-time equivalent (FTE) training.

Fellowship

Once you've completed all requirements of your training and the TPC – Clinical Genetics has recommended you for admission, the College will invite you to apply for Fellowship of the Royal Australasian College of Physicians.

See Becoming a Fellow for information on admission to Fellowship.

As a Fellow in active practice in Australia, Aotearoa New Zealand or overseas, you’ll need to meet the annual requirements of the Continuing Professional Development program.

Note: Metabolic genetics and cancer genetics represent subspecialties of clinical genetics and are not recognised by regulators in Australia or Aotearoa New Zealand as specialties in their own right.

Apply or re-register

Australia

Australian trainees can complete their registration online.

Apply online

If the online registration is closed, email an application form (DOC) to clinicalgenetics@racp.edu.au

Aotearoa New Zealand

Aotearoa New Zealand trainees must email an application form (DOC) to clinicalgenetics@racp.edu.au

Nominating eligible supervisors

From mid-2023, you’re required to nominate eligible supervisors who meet the supervision requirements of the training program.

You can find a list of eligible supervisors:

in the supervision section of your online registration form
on MyRACP

The MyRACP list is not available for post-Fellowship trainees. Post-Fellowship trainees can check the list in their online registration form or contact us to confirm supervisor eligibility.

Application deadlines

28 February | first half or whole of the current year

31 August | second half of the current year

You're responsible for organising all necessary documentation for submission by the deadline. We recommend that you keep a copy of your application for future reference.

See program key dates for trainees and supervisors.

Late applications

Late applications will be considered up to 1 month after the deadline.

Late applications may incur a fee.

Late fees won't apply if supervisor approval is pending after the deadline.

Fees

The standard annual membership fees apply.

Visit MyRACP to pay or view previous training program payments.

About your training position

Core training must be undertaken at accredited settings.

Once you have secured a training position, you must prospectively apply for approval as per the Progression through Training Policy.

The College is not involved in the recruitment and selection of trainees. Our role is to set and monitor standards for selection and provide advice to settings and their selection committees.

Training approval and certification

Approval of training periods are determined by the Training Program Committee (TPC) – Clinical Genetics. To be approved, your individual training program must be consistent with the training requirements and appropriate for the stage of training you have reached.

Upon completion of each rotation or calendar year of training, the TPC reviews your progress according to the training requirements. If you have satisfactorily completed all training requirements, the TPC will certify that training period.

Training variations

See multi-specialty training options for processes covering dual, joint, conjoint and post-Fellowship training.

See flexible training options for information on part-time training, interruptions to training, withdrawing from training and time limits.

Rotation or supervision changes

Changes to your rotation require you to re-submit an application form (if online registration is closed) to your training committee as soon as possible. This includes any changes to sites, dates of rotations and flexible training arrangements.

Change to your supervision must be notified as soon as possible by submitting a Supervisor Details Amendment Form (DOC).

Some changes may require a review of the approval decision and can affect the certification of your training.

More information

Overseas specialists
Trainee responsibilities

Training requirements

At the end of your Advanced Training in Clinical Genetics, you’ll have completed 36 months of certified training time consisting of work-based learning and assessment tools.

The PREP teaching and learning activities are designed to support you in your reflective practice and self-directed learning. A variety of teaching and learning activities and assessments are used, catering to a range of learning needs, styles and situations that may arise in your workplace training.

See forms and resources for the training program curricula.

Requirements overview

Core training
(30 months minimum)

Supervision

1 x supervisor per rotation, who is a Fellow of the RACP and a practising clinical geneticist

1 x supervisor per rotation, who is a Fellow of the RACP (or equivalent)

Teaching and learning requirements

1 x Learning Needs Analysis per training year

1 x Professional Qualities Reflection per training year

Assessments

4 x Case-based Discussions per training year

Case reports:

3 x reports in your first training year
4 x reports in your second training year
5 x reports in your third training year^*

1 x Supervisor’s Report per rotation (2 per 12-month minimum — full-time and part-time trainees)

Non-core training
(6 months maximum)

Supervision

1 x supervisor per rotation, who is a Fellow of the RACP and a practising clinical geneticist (general clinical genetics and cancer genetics streams) or metabolic geneticist (metabolic genetics stream)

1 x supervisor per rotation, who is a Fellow of the RACP (or equivalent)

Teaching and learning requirements

1 x Learning Needs Analysis per training year

1 x Professional Qualities Reflection per training year

Assessments

2 x Case-based Discussions per rotation

Case reports:

3 x reports in your first training year
4 x reports in your second training year
5 x reports in your third training year^*

1 x Supervisor’s Report per rotation (2 per 12-month minimum — full-time and part-time trainees)

^* Trainees who commenced before 2019 can submit 4 case reports in their third year of training, provided this meets the 12 satisfactory case report total that’s required over the course of training.

Advanced Training summary

After 36 months of certified training time, you will have completed:

30 months of core training
6 months of non-core training
1 x Advanced Training Research Project (trainees who commenced in 2017 onwards)
1 x Clinical Genetics Research Project (trainees who commenced before 2017)
12 x Case Reports
Australian Aboriginal, Torres Strait Islander and Māori Cultural Competence and Cultural Safety online course (trainees who commenced 2023 onwards)
Developmental and Psychosocial Training^* (Paediatrics & Child Health trainees only)
Laboratory experience
Paediatric Advanced Life Support course (Aotearoa NZ Paediatrics & Child Health trainees only)
Tertiary counselling course (recommended)
University genetics course

^* Completion of your Developmental and Psychosocial Training will be satisfied by completing all the requirements of your Clinical Genetics Advanced Training Program under supervision of the Training Program Committee – Clinical Genetics.

Program key dates

January – March

31 January | Previous year’s Supervisor’s Report and all PREP learning and assessment tools due (trainees not applying for Fellowship in December)
28 February | Applications for Approval of Advanced Training for the first half or whole of the year due
31 March | Advanced Training Research Project may be submitted
Case-based Discussion

April – June

15 June | Advanced Training Research Project may be submitted
Case-based Discussion

July – September

15 July | Supervisor’s Report due
31 August | Applications for Approval of Advanced Training for the second half of the year due
15 September | Advanced Training Research Project due (final year trainees who commenced in 2017 onwards)
15 September | Clinical Genetics Research Project due (final year trainees who commenced before 2017)
Case-based Discussion

October – December

from 15 October | Supervisor’s Report and all PREP tools due (for trainees eligible for Fellowship in December)
Case-based Discussion

Time-based requirements

General clinical genetics

The Advanced Training Program in Clinical Genetics allows adequate time for you to gain the necessary learning experiences across a range of relevant rotations during your 3-year total training period (36 months FTE).

Training	Time requirement
Total core training	30 months
— General clinical genetics Trainees who commenced in 2023 onwards Trainees who commenced before 2023	24 months minimum 12 months minimum
Total non-core training	6 months

Trainees who commenced in 2022 onwards must undertake 24 months minimum of Advanced Training in Clinical Genetics within Australia and/or Aotearoa New Zealand.

Trainees who commenced before 2022 must undertake 12 months minimum of Advanced Training in Clinical Genetics within Australia and/or Aotearoa New Zealand, however 24 months minimum is recommended.

This is to ensure that you receive adequate exposure to local practices and health services.

Core training (30 months FTE)

All training must be undertaken in accredited core clinical genetics training positions.

Core general clinical genetics

Trainees who commenced in 2023 onwards, must undertake 24 months minimum of core training in general clinical genetics.

Trainees who commenced before 2023, must undertake 12 months minimum (24 months strongly recommended) of core training in general clinical genetics.

This requires at least 3 clinics per week (or equivalent) that include:

general clinical genetics
prenatal diagnosis clinic
other clinics like follow-up clinics for previous patients or specialty clinics (cancer genetics or ophthalmological genetics)
journal club
- 1 per week for Australian trainees
- 1 per month (minimum) for Aotearoa New Zealand trainees
1 review session per week, for example:
- a review of clinical cases seen
- discussion of dysmorphology slides
- discussion of counselling issues

Throughout training, you’re expected to attend the equivalent of 1 laboratory liaison per week covering areas like:

cytogenetics
molecular genetics
serum/prenatal screening
inborn errors of metabolism/biochemical genetics
neonatal screening

During your 3 years of training, core experience should include minimum:

1 week in a cytogenetics diagnostic laboratory
2 weeks in a diagnostic molecular laboratory^*
1 week in a biochemical genetics laboratory
1 week exposure to genomics/variant curation

^* Trainees who commenced before 2022, only 1 week in a diagnostic molecular laboratory is required, however 2 weeks is recommended.

Laboratory experience must meet the standards set out in the Laboratory Genetics section of the Joint Royal Colleges of Physicians Training Board’s Specialty Training Curriculum for Clinical Genetics — August 2010 (Amendments 2016) (PDF).

Non-core training (6 months FTE)

A maximum of 6 months of non-core training can be undertaken in clinical training that includes significant genetics exposure or in clinical genetics research. Training in core metabolic genetics or cancer genetics positions would also be suitable as non-core training.

Positions where there is limited exposure to the investigation and management of patients with genetic conditions in the normal course of work will not be approved as non-core training.

For all non-core training requests, please submit an application for prospective approval of training, along with any supporting documentation.

Trainees should contact the College as early as possible about proposed non-core training and seek advice from the TPC prior to accepting a position.

Metabolic genetics

Training	Time requirement
Total core training	30 months
— Metabolic genetics	24 months
— General clinical genetics	6 months
Total non-core training	6 months

Trainees who commenced in 2022 onwards must undertake 24 months minimum of Advanced Training in Clinical Genetics within Australia and/or Aotearoa New Zealand.

Trainees who commenced before 2022 must undertake 12 months minimum of Advanced Training in Clinical Genetics within Australia and/or Aotearoa New Zealand, however 24 months minimum is recommended. 

This is to ensure that you receive adequate exposure to local practices and health services.

Core training (30 months FTE)

Trainees specialising in metabolic genetics will spend at least 2 years (24 months FTE) in metabolic genetics. Metabolic genetics training should be completed in more than 1 metabolic genetics centre.

Core metabolic genetics (24 months FTE)

Metabolic genetics clinical experience must include:

management of metabolic inpatients and inpatient consultations
participation in after hours on call metabolic roster
outpatient clinics: 2-3 metabolic clinics per week
weekly biochemical genetics and newborn screening laboratory meetings
regular liaison between metabolic laboratory staff and referring clinicians
interpretation of metabolic test results
exposure to dysmorphology, neurogenetics, prenatal or preconceptual counselling
if possible, exposure to specialist metabolic testing e.g. lysosomal, mitochondrial and other enzymology

Core general clinical genetics (6 months FTE)

At least 6 months FTE training must be dedicated solely to general clinical genetics. This requires at least 3 clinics per week (or equivalent) that include:

general clinical genetics
prenatal diagnosis clinic
other clinics like follow-up clinics for previous patients or specialty clinics (cancer genetics or ophthalmological genetics)
journal club
- 1 per week for Australian trainees
- 1 per month (minimum) for Aotearoa New Zealand trainees
1 review session per week, for example:
- a review of clinical cases seen
- discussion of dysmorphology slides
- discussion of counselling issues

Throughout training, you’re expected to attend the equivalent of 1 laboratory liaison per week covering areas like:

cytogenetics
molecular genetics
serum/prenatal screening
inborn errors of metabolism/biochemical genetics
neonatal screening

During your 3 years of training, core experience should include minimum:

1 week in a cytogenetics diagnostic laboratory
2 weeks in a diagnostic molecular laboratory^*
2 weeks in a biochemical genetics laboratory
1 week exposure to genomics/variant curation

^* Trainees who commenced before 2022, only 1 week in a diagnostic molecular laboratory is required, however 2 weeks is recommended.

Non-core training (6 months FTE)

A maximum of 6 months non-core training can be undertaken in a discipline directly relevant to metabolic genetics that includes significant metabolic exposure such as:

metabolic/genetic research
biochemical laboratory
newborn screening laboratory

For all non-core training requests, please submit an application for prospective approval of training, along with any supporting documentation.

Positions where there is limited exposure to the investigation and management of patients with metabolic conditions in the normal course of work will not be approved as non-core training.

Trainees should contact the College as early as possible about proposed non-core training and seek advice from the TPC prior to accepting a position.

Cancer genetics

Training	Time requirement
Total core training	30 months
— Cancer genetics	18 months
— General clinical genetics	12 months
Total non-core training	6 months

Trainees who commenced in 2022 onwards must undertake 24 months minimum of Advanced Training in Clinical Genetics within Australia and/or Aotearoa New Zealand. 

Trainees who commenced before 2022 must undertake 12 months minimum of Advanced Training in Clinical Genetics within Australia and/or Aotearoa New Zealand, however 24 months minimum is recommended. 

This is to ensure that you receive adequate exposure to local practices and health services.

Core training (30 months FTE)

Trainees specialising in cancer genetics are to complete 30 months of core training.

Core cancer genetics (18 months FTE)

You’re required to undertake at least 18 months FTE exclusively in cancer genetics, including:

3 x family cancer clinics per week
adequate exposure to adult and paediatric genetics
weekly attendance at a multidisciplinary cancer management meeting
weekly journal club

Core general clinical genetics (12 months FTE)

At least 12 months FTE training must be dedicated solely to general clinical genetics. This requires at least 3 clinics per week (or equivalent) that include:

general clinical genetics
prenatal diagnosis clinic
other clinics like follow-up clinics for previous patients or specialty clinics (cancer genetics or ophthalmological genetics)
journal club
- 1 per week for Australian trainees
- 1 per month (minimum) for Aotearoa New Zealand trainees
1 review session per week, for example:
- a review of clinical cases seen
- discussion of dysmorphology slides
- discussion of counselling issues

Throughout training, you’re expected to attend the equivalent of 1 laboratory liaison per week covering areas like:

cytogenetics
molecular genetics
serum/prenatal screening
inborn errors of metabolism/biochemical genetics
neonatal screening

During your 3 years of training, core experience should include minimum:

1 week in a cytogenetics diagnostic laboratory
2 weeks in a diagnostic molecular laboratory^*
1 week in a biochemical genetics laboratory
1 week exposure to genomics/variant curation

^* Trainees who commenced before 2022, only 1 week in a diagnostic molecular laboratory is required, however 2 weeks is recommended.

Throughout training, you’re also required to revise and review the literature regarding oncology guidelines, such as EviQ, and contribute to familial cancer registries.

Non-core training (6 months FTE)

A maximum of 6 months of non-core training can be spent in clinical oncology (medical or surgical) or related oncology research.

For all non-core training requests, please submit an application for prospective approval of training, along with any supporting documentation.

Trainees should contact the College as early as possible about proposed non-core training and seek advice from the TPC prior to accepting a position.

Work-based learning and assessment requirements

A work-based learning and assessment tool requirement stipulates what you must achieve as part of your training program.

Type of assessment

Formative: Focuses on learning through feedback and guidance, assisting trainees and supervisors through the formal feedback process, which should prompt discussion of or highlight areas of a trainee’s performance. Assessments are based on existing workplace-based assessment methods and are best practice in medical education.

Summative: Focuses on judgements about trainee progression, resulting in pass or fail decisions on a trainee’s performance.

Advanced Training Research Project

Requirement for trainees who commenced in 2017 onwards

Open all

Overview

The Advanced Training Research Project (ATRP) is a report on a project that you have had significant involvement in designing, conducting of research and analysis of data. It enables you to gain experience in:

research methods
interpretation of research literature
participation in research at some stage of your career
developing quality improvement skills

ATRPs aren't required to be specialty-specific but must be broadly relevant to your area of specialty. ‘Broadly relevant’ is defined as topics that can enhance, complement and inform your practice in the chosen specialty.

The ATRP, introduced to most trainees who commenced after 2017, addresses wide variations in purpose, type, quantity and assessment criteria across the RACP Training Programs. An ATRP submission provides evidence of the skills of:

considering and defining research problems
the systematic acquisition, analysis, synthesis and interpretation of data
effective written communication

The ATRP requirement must be undertaken and completed during your Advanced Training. If you're dual training, you only need to complete one ATRP over the course of Advanced Training.

Review your training program requirements to confirm whether there are any additional research requirements beyond completing your ATRP.

For further information regarding ATRP requirements, refer to the Advanced Training Research Project Guidelines (PDF)

Submission deadlines and review timelines

There are 3 deadlines that must be followed when submitting an Advanced Training Research Project. Trainees can choose to submit their Research Project on any of these 3 dates during the year.

It's strongly recommended that trainees submit their Research Project in the second last year of training, or at the end of the specialty consolidation phase. This helps avoid delays in progressing through training or being admitted to Fellowship.

Deadline 1: 31 March
Deadline 2: 15 June
Deadline 3: 15 September

Any project received between 2 deadlines will be sent for marking after the next official deadline.

For example, if an ATRP is submitted in May, it will be marked after the 15 June deadline.

For more details about review timelines, see the Advanced Training Research Project Guidelines (PDF)

Resources

Case-based Discussion

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Overview

A Case-based Discussion (CbD) is a work-based assessment and Advanced Training Program requirement used to evaluate your professional judgement in clinical cases.

A CbD involves a comprehensive review of a clinical case or cases between you and an assessor. After the CbD, the assessor provides constructive feedback to help you improve and structure your future learning.

The CbD aims to:

guide your learning through structured feedback
improve clinical decision making, clinical knowledge and patient management
provide you with an opportunity to discuss their approach to the case and identify strategies to improve your practice
enable your assessor to share their professional knowledge and experience

An assessor can choose any case or cases where you'll play a significant role in clinical decision-making and patient management. The discussion should reflect your level of experience and be linked to your Advanced Training Curriculum.

The discussion may focus on a single complex case or a series of cases covering a wide range of clinical areas. Areas may include:

record keeping
history taking
clinical findings and interpretation
management plan
follow-up and future planning

Step-by-step: Case-based Discussion

Arrange a CbD with your assessor.

Your assessor will choose an appropriate case or cases.

Confirm the chosen case or cases with your assessor.

Provide your assessor with a CbD rating form (PDF).

Discuss the case or cases with your assessor – allow for at least 30 minutes.
Note: Your assessor will be making notes and ratings on the CbD rating form during this discussion.

Your assessor provides you feedback following your CbD – allow for at least 10 minutes.

You and your assessor sign the CbD rating form.

Enter the data from your completed CbD form into the online CbD tool via your relevant training portal:
Advanced Training Portal | AFRM Portal | AFPHM Portal | AFOEM Portal

Submit a copy of your completed form to your assessor through the online CbD tool in your training portal.

Requirements

Requirement

4 x Case-based Discussions (CbD) to be completed every training year

Deadlines

Due 31 January in the following year.

In your final year, your CbDs are due from 15 October.

Submit your CbD rating form data via the Advanced Training Portal.

Resources

Case-based Discussion rating form (PDF)

Case report

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Overview

A case report is a formative assessment that guides your learning through structured feedback and helps your supervisor evaluate the expertise and judgement you’ve demonstrated in clinical cases.

Part of the purpose of writing case reports is to develop your written communication, which is an important skill for a clinical geneticist.

You’ll complete 12 satisfactory case reports in total over the course of your training. Each case report should be based on each one of your submitted Case-based Discussions.

Before beginning your case study, you should consider what issues you’ll focus on. Discuss suitable cases with your supervisor(s) or genetic counsellors in your service so you have a clear idea about what you will discuss in the counselling section.

Examples where a common counselling issue was faced in a clinical genetics consultation or if there were particularly difficult issues faced by the patient/family or clinicians/genetic counsellors will allow for good reporting.

Resources

Case report cover sheet (DOC)

Requirements

General clinical genetics and cancer genetics

Requirement

Submit 12 x satisfactory case reports over the course of training:

3 x case reports in the first year of training
4 x case reports in the second year of training
5 x case reports in the third year of training^*

2 x case reports addressing genomics must be submitted each training year in order to progress through your training program.

^*Trainees who commenced before 2019 can submit 4 case reports in their third year of training, provided this meets the 12 satisfactory case report total that’s required over the course of training.

Deadlines

First year:

15 September (February intake)
31 January in the following year (August intake)

Second and third years: 15 September

Completion of case reports are required to progress to your next year of training. If the requirement isn’t met, your training will not be certified and the first 6 months of the following year will be deferred until outstanding case reports are submitted.

Special consideration

In exceptional circumstances, you can apply for special consideration (DOC) and be granted an extension through to 28 February in the following year. Special consideration decisions are at the discretion of the Training Program Committee.

If you fail to meet the extension deadline, your training will not be certified and the first 6 months of the following year will be deferred until your outstanding case reports are submitted.

Trainees who spend their first 6 months of their training year in a research position may apply for a variation of this rule for their first year. The requirements in your second year of training will remain the same.

Resources

Case report cover sheet (DOC)

Metabolic genetics

Requirement

Submit 12 x satisfactory case reports over the course of training:

3 x case reports in the first year of training
4 x case reports in the second year of training
5 x case reports in the third year of training^*

^*Trainees who commenced before 2019 can submit 4 case reports in their third year of training, provided this meets the 12 satisfactory case report total that’s required over the course of training.

Deadlines

First year:

15 September (February intake)
31 January in the following year (August intake)

Second and third year: 15 September

Special consideration

If you fail to meet the extension deadline, your training will not be certified and the first 6 months of the following year will be deferred until your outstanding case reports are submitted.

Resources

Case report cover sheet (DOC)

Report topics

General clinical genetics and cancer genetics

Overall, your 12 case reports should comprise of:

6 x case reports (minimum) addressing genomics, 2 reports per training year required
2 x case reports (minimum) covering clinical cases in:
- cytogenetics
- dysmorphology/clinical diagnosis
- molecular genetic testing/clinical correlation
- biochemical genetics
- prenatal diagnosis
- mendelian genetic problems, for example cystic fibrosis, Huntington’s disease or myotonic dystrophy

A maximum of 2 publications per training year can be submitted as case reports where it’s not possible to include counselling issues, for example review articles.

Resources

Clinical Genetics case report cover sheet (DOC)

Metabolic genetics

Overall, your 12 case reports should comprise of:

5 x case reports (minimum) should focus on the management/treatment issues relevant to the case — a list of counselling/psychosocial issues and pedigree to be included separate to the report
5 x case reports (minimum) should discuss counselling/psychosocial issues in depth — a list of relevant management/treatment issues and pedigree to be included separate to the report
2 x case reports should relate to general clinical genetics cases in:
- cytogenetics
- dysmorphology/clinical diagnosis
- molecular genetic testing/clinical correlation
- biochemical genetics
- prenatal diagnosis
- mendelian genetic problems, for example cystic fibrosis, Huntington’s disease or myotonic dystrophy

A maximum of 2 publications per training year can be submitted as case reports where it’s not possible to include counselling issues, for example review articles.

Note: Metabolic genetics trainees should submit a combination of cases covering metabolic management and/or more detailed counselling/psychosocial issues.

Resources

Clinical Genetics case report cover sheet (DOC)

Submission guidelines

Structure

Your case report should cover the following:

summary
referral details
clinical section, including:
- history
- pedigree
- clinical examination
- differential diagnosis
- literature review
counselling issues, including:
- reasons for seeking assessment
- dilemmas faced by consult
- emotions, such as fear, grieving, guilt, anger and psychological defence mechanisms
- a consultant’s understanding of discussion of testing, penetrance/occurrence risk, recurrence risk, natural history, variability, prenatal and/or diagnostic testing
- benefits and limitations of testing uncertainty
- offer of plans for counselling to relatives at risk
- outcome follow-up/management
reflection
bibliography/reference list

Supplementary information, such as a summary of results, is not allowed. If it's relevant to the case, it should fall within the main body of the case report and the overall word limit.

Word limit

1500 to 2000 words for each case report, excluding your reflection and references.

The counselling section of your report should count for at least 10% of the word limit total, with 2 to 3 references from counselling literature.

If your case report exceeds 2000 words, it will not be submitted to the markers for review. Your case report will be immediately returned to you by the Education Officer for revision.

Note: An exception to the word limit is where a trainee submits a case report (as first author) that’s either already accepted/published or submitted to a journal, with an appended counselling issues section.

Formatting

Key requirements for each case report:

A properly drawn pedigree with correct symbols labelled according to convention, such as Roman numerals.
Adherence to an agreed reference style, such as Vancouver or Harvard.
Spelling, grammar and writing style that is of equal to an article accepted for publication — sound use of English and no typographical or grammatical errors.
No use of names, for example ‘the child’ or ‘the infant’, but rather refer to an individual as a ‘patient’.
When its necessary to identify an individual, apply numerical labels like ‘Patient 1’ or use their pedigree numerical reference.
Use of correct nomenclature for mutations.

Advice

Pedigree

Use the standardise nomenclature as described in Standardized Human Pedigree Nomenclature: Update and Assessment of the Recommendations of the National Society of Genetic Counselors, J Genet Counsel (2008).

Sequence variants

should be described in the text and tables using both DNA and protein designations whenever appropriate
nomenclature should follow the current Human Genome Variation Society guidelines
human gene nomenclature should follow the standards of the HUGO Gene Nomenclature Committee (HGNC)

Clarity of reporting

It’s important to write your case report in a concise and focused way.
The description of the case should be succinct.
Don’t abbreviate terms unless they are used repeatedly throughout the report — use an abbreviation that is helpful.
Think about what is important to the diagnosis, the decisions that were made, the patient and relevant to counselling issues.
Discussion of the disorder should also be concise and focused on what is clinically important, though emphasis will vary from case to case.
The differential diagnosis may be very important in a dysmorphology case and completely irrelevant in a case of predictive testing for Huntington disease.

Diagrams and tables

Avoid ‘cutting and pasting’ diagrams or tables directly from publications.
Consider whether any diagram/table included is necessary and adds value.
Including a table containing the results of every investigation performed on a patient is never appropriate — only include the pertinent positive and negative results.

Referencing

Reference to the relevant literature is important but doesn’t need to be exhaustive — aim for 10 to 20 references for the entire case.
Reference to primary literature is preferable, rather than referencing GeneReviews for example, to show evidence you have read and understand where the information comes from.

Guidance has been provided by Dr Juliet Taylor and Associate Professor Carolyn Ellaway, modified from Guidelines for Writing and Marking Case Reports by Associate Professor Edwin Kirk.

Resources

American Journal of Medical Genetics author guidelines
HUGO Gene Nomenclature Committee
Human Genome Variation Society sequence variant nomenclature guidelines
Clinical Genetics case report cover sheet (DOC)
Standardized Human Pedigree Nomenclature | J Genet Counsel

Marking outcomes

Generally, a case report is marked and returned to you in approximately 8 weeks.

Each case report is assigned 2 reviewers who decide whether it deserves a satisfactory or unsatisfactory mark.

Both reviewers must mark a case report ‘satisfactory’ in order to achieve a satisfactory mark.

Note: The management section will be marked by a metabolic specialist. If there are important errors or omissions in the management described, the case will be marked as unsatisfactory.

If a case is assessed as unsatisfactory, the reviewers will try to provide clear feedback on where the case report was lacking and how it can be improved.

Following an unsatisfactory mark, a trainee will have 3 months to resubmit their case report, addressing the reviewer’s feedback.

If there is a delay in returning your case report to you, the Education Officer will contact you to provide an update.

Resources

Clinical Genetics case report cover sheet (DOC)
Clinical Genetics case report marking criteria (DOC)

Clinical Genetics Research Project

Requirement for trainees who commenced before 2017

Open all

Overview

The Clinical Genetics Research Project is designed to help you gain:

experience in research methods
insight into the limitations and pitfalls of research in genetics
skills in critical evaluation of the research of others

Submission of your research project provides evidence of:

skills in considering and defining research problems
systematic acquisition, analysis, synthesis and interpretation of data
effective written communication

All trainees should be able to complete the research project requirement during clinical training. Generally, this can be achieved by a trainee conducting or taking a major role in a research project that could lead to publication in a peer-reviewed journal.

Each research project is assessed by 2 independent reviewers.

Resources

Clinical Genetics Research Project cover sheet (DOC)
Research Project Checklist and Planner (XLS)

Requirements

Requirement

1 x Clinical Genetics Research Project, completed over the course of your training

Deadlines

Proposal: 15 September in your second year of training

Final report: 15 September in your final year of training

We recommend that you submit your research project proposal by the 15 September in your first year.

Resources

Clinical Genetics Research Project cover sheet (DOC)
Research Project Checklist and Planner (XLS)

Submission guidelines

Your research project should be presented in a standard suitable for publication, adhering to the usual norms of scientific writing.

Research projects should provide defined aims, study design, methodology, results and a discussion of outcomes. The conclusions should relate to the aims.

Suggested headings:

Abstract
Introduction
Materials and methods, including ethical consideration and patient recruitment
Results to date
Discussion, including problems encountered
Conclusions
Plans for the future

A standard, consistent method of citing literature should be applied.

It’s expected that your research project is written in sound English and is free from grammatical and typographical errors.

You’re expected to be the first author of the research project submitted for assessment. However, second or lower authorship may be acceptable if you can demonstrate a substantial role in the research project’s planning and execution.

The provision of patient material to a research group only is not acceptable.

Published work

It’s not a requirement that your research project is published at the time of submission.

Unpublishable work may still be acceptable if the trainee can demonstrate that the goals of the research project have been met. For example, if a trainee spends a substantial amount of time developing laboratory methods for an assay that consequently doesn’t add any importance to the understanding of the topic, no publication is likely to result. Nevertheless, the trainee will still have met the goals of the research project.

Published case reports are not acceptable for this requirement but a substantial case series can be. For example, an acceptable case series would be one where a trainee:

obtains ethics approval
locates and contacts a large number of patients
examines these patients
collates and analyses the data
presents the findings in a report of appropriate standard

Resources

Clinical Genetics Research Project cover sheet (DOC)
Research Project Checklist and Planner (XLS)

Project supervisor's role

Your project supervisor is there to assist you in the selection of your project and its design, as well as guide you in completion of the project. Your supervisor is not a joint author.

Supervisors are responsible for certifying that a project is ready for submission. You must allow adequate time for your supervisor to read and provide feedback prior to submission.

Your project supervisor is required to report on your role in the research, including the amount of time spent actually conducting the research (in hours per week and number of weeks).

For laboratory projects, it should be clearly reported what experiments were carried out at the bench by you and what work was completed by other laboratory personnel.

Resources

Clinical Genetics Research Project cover sheet (DOC)

Course and meeting attendance

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Overview

Trainees are expected to undertake prescribed study and professional activities throughout their Advanced Training.

University genetics course

The course can be completed up to 3 years before commencing training and still count towards training program requirements. Trainees don't need to apply for RPL.

Approved university genetics course should cover:

segregation and linkage analysis
statistical approaches to risk interpretation
cytogenetics
molecular genetics
community genetics, including principles and practice of screening
developmental genetics

Approved courses:

Genomics and Precision Medicine | University of Sydney

HMX Fundamentals: Genetics | Harvard Medical School

Recommendations

Trainees are recommended to participate in these activities:

Meeting attendance at hospital meetings, journal clubs and relevant clinical genetics conferences throughout your training.
Supervised teaching experience in teaching undergraduate and postgraduate students in medical and non-medical disciplines.
Completion of a tertiary counselling course like the counselling workshop facilitated at the Australasian Association of Clinical Geneticists' (AACG) Annual Trainees’ Day. Other tertiary counselling courses can be completed.

Requirements

Requirement

1 x approved university genetics course
1 x tertiary counselling course (recommended)
Attendance at hospital meetings, journal clubs and relevant conferences (recommended)

Deadline

All requirements are to be completed by the end of your Advanced Training.

Completion of attendance is to be certified by your supervisor in your Supervisor’s Report(s).

Cultural Safety

Requirement for trainees who commenced in 2023 onwards

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Overview

Specialist training requires you to:

examine your own implicit biases
be mindful of power differentials
develop reflective practice
undertake transformative unlearning
contribute to a decolonisation of health services for Indigenous peoples

The Australian Aboriginal, Torres Strait Islander and Māori Cultural Competence and Cultural Safety online course teaches best practice medicine for Aboriginal, Torres Strait Islander and Māori patients through reflection on your own cultural values and recognition of their influence on professional practice.

Resources

RACP Online Learning: Australian Aboriginal, Torres Strait Islander and Māori Cultural Competence and Cultural Safety

Requirements

Requirement

1 x Australian Aboriginal, Torres Strait Islander and Māori Cultural Competence and Cultural Safety online course^*

^* If not completed during Basic Training.

Certification

You immediately receive your certificate on RACP Online Learning when you complete the course.

Deadline

You must complete the course by the end of your Advanced Training however it’s recommended you complete it within your first year.

Resources

RACP Online Learning: Australian Aboriginal, Torres Strait Islander and Māori Cultural Competence and Cultural Safety

Learning Needs Analysis

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Overview

A Learning Needs Analysis (LNA) embeds the process of planning and evaluating learning in the trainee’s practice.

The LNA is designed to help you:

tailor your learning experiences and build on clinical knowledge and skills
enhance face-to-face communication with your supervisor
provide information on your learning needs and progress
reflect on your strengths, limitations and future learning strategies

Your ward/service consultant or supervisor are responsible for:

advising you of available learning opportunities and resources
ensuring you have set appropriate goals and identified achievable learning objectives
reviewing your completed LNA and providing you feedback

Step-by-step: Learning Need Analysis

You need to complete a specified number of LNAs each year, per rotation. Refer to the training program requirements for the required number.

Prepare for your LNA

To plan the learning objectives for each training period, discuss the learning opportunities and resources available with your ward/service consultant or supervisor.

Meet with your consultant/supervisor to discuss:
- career goals
- personal strengths and weaknesses
- strengths and constraints of the training site/rotation, including the expertise of the medical staff and the resources available
- requirements established in the curriculum, the Professional Practice Framework and Professional Standards (PDF)

Create your LNA: Part 1

Log into your online training portal and create a new LNA
Basic Training Portal^* | Advanced Training Portal | AFOEM Portal | AFRM Portal

You'll be prompted to enter:
- learning goals for the training period
- self-evaluation on current competency for the goals identified
- learning objectives from the curricula that map to your goals (optional)
- strategies and resources that will assist your learning
- contact details of additional supervisors (optional)

Submit Part 1 of your LNA

You and your consultant/supervisor can meet to review and improve your LNA

Begin implementing your LNA over your training period

Complete your LNA: Part 2

At the end of your training period, you'll complete a self-evaluation of your LNA.

Provide your input on:
- competency in the areas specified in the learning plan
- evidence of learning
- reflection on training period

Complete your LNA by submitting LNA Part 2

Your consultant/supervisor can access your completed LNA

^* New trainees who don't currently have access to the Basic Training Portal can complete a Learning Needs Analysis form (DOC). You don't need to submit this to your supervisor. When you have access to the portal, fill in your LNA online.

Requirements

Requirement

1 x Learning Needs Analysis (LNA) per training year, early in your rotation (core or non-core)

Deadline

Due 31 January in the following year.

Submit your LNA via the Advanced Training Portal.

Paediatric Advanced Life Support course

Requirement for Aotearoa New Zealand Paediatrics & Child Health trainees only.

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Overview

A Paediatric Advanced Life Support (PALS) course or equivalent ensures that you have the skills to support patients requiring resuscitation.

If you have completed a PALS course within 12 months prior to entering Advanced Training, you can submit your course certification.

We do not endorse any PALS course providers.

Requirements

Requirement

1 x Paediatric Advanced Life Support (PALS) course or equivalent, before the end of your Advanced Training

Certification

Submit a certified copy of your PALS certificate before completing Advanced Training.

We recommend you complete a PALS course within your first year of Advanced Training.

Professional Qualities Reflection

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Overview

A Professional Qualities Reflection (PQR) allows a trainee to reflect on an event, or series of events, that is medically or professionally significant to them.

Through analysis of the event, you’ll be able to identify and integrate new skills and knowledge to improve your performance.

Reflecting on your professional qualities can cause you to question your beliefs, attitudes and behaviours, and develop new ideas and insights to inform your future practice.

When planning your PQR, you should consider:

What happened?
Why did it happen?
What did you learn?
How can you improve patient care?
What action did you or will you take?

Refer to your specific PQR program requirements.

Choosing an event

Analyse an event or events that impacts your professional practice.

The event can be positive or negative but doesn't have to be dramatic or life threatening. The event should relate to a variety of different encounters you might experience in a healthcare setting.

Step-by-step: Professional Qualities Reflection

Go to your online training portal:
Basic Training portal
Advanced Training portal
AFOEM portal
AFPHM portal
AFRM portal

Select the PQR tool and create a new entry.

Describe an event, or series of events, of professional significance.

Reflect on the event. How did you respond to it?

Detail the insights you gained from the event(s) and how it will impact your medical professionalism.

Submit your completed PQR to your Professional Development Advisor^* (Basic Training) or Supervisor (Advanced Training) through your online training portal.

Arrange with your Advisor or Supervisor a time to discuss your PQR.

At your meeting/interview, discuss your PQR with your Professional Development Advisor or Supervisor and seek feedback on your future practice.

^* A Professional Development Advisor doesn’t need to be a RACP Fellow. For example, your Advisor can be your Ward/Service Consultant or an Advanced Trainee.

Qualified privilege

Australia

The Commonwealth Qualified Privilege Scheme for the PQR expired on 1 October 2021.

The PQR was a quality assurance activity that had been declared on behalf of the Minister of Health and Aged Care by the Chief Medical Officer of the Department of Health under Part VC section 124X of the Health Insurance Act 1973 under the Commonwealth Qualified Privilege Scheme.

Documents and information that became known when the activity was a declared quality assurance activity will continue to be protected from disclosure under the Commonwealth Qualified Privilege Scheme.

Statutory protection will not apply to documents or information provided as part of a quality assurance activity after 1 October 2021.

See Anonymity and confidentiality.

Aotearoa New Zealand

Information entered in the PQR tool and which has become known solely as a result of the PQR is protected under the Health Practitioners Competence Assurance Act 2003.

The Act outlines conditions which apply to use of the PQR, which include:

information already existing, for example in patient notes, is not protected
information entered in the PQR cannot be disclosed to, or recorded by, others who are outside the PQR activity

The Minister of Health can authorise disclosure for investigation purposes if they are satisfied that the material relates to a serious offence.

Anonymity and confidentiality

The RACP strongly advises de-identifying any information entered in a PQR. Please de-identify any names of patients, peers, persons or organisation(s) to protect the privacy of individuals/organisation(s) in accordance with the Privacy Act 1988 (Cth) and the Australian Medical Association Privacy Handbook.

The College won’t release any information that you give in this self-reflective tool to any third party without consent unless it’s required to do so by law.

If you receive a subpoena or court order requesting quality assurance activity records, you can seek legal advice about whether the records must be produced.

Requirements

Requirement

1 x Professional Qualities Reflection (PQR) each training year

Deadlines

Due 31 January in the following year.

In your final year, you must submit your PQR by 15 September.

Submit your PQR via the Advanced Training Portal.

Supervisor's Report

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Overview

A Supervisor's Report provides a comprehensive overview of your progress and achievement during the training year. It provides you with structured feedback on your performance from your supervisor and will inform the decision on the certification of your training.

How to complete your Supervisor’s Report

Your nominated supervisor(s) are listed in your online Supervisor’s Report and must complete their section of the report.

Using a laptop or desktop PC, open a new Microsoft Edge or Google Chrome browser.

Open the report for your current training period.

Complete the active fields in each report tab. Some fields are for supervisors only and will appear inactive to trainees.

After your supervisor(s) have completed their assessment, you should meet with them to discuss their assessment of your performance.

Following your discussion, your supervisor submits the report.

You and your supervisor(s) can add comments and complete declarations in the ‘Submit report’ tab.

Your report is complete only after you and your supervisor(s) have completed the declarations.

Late submission

The Training Program Committee may not certify training if your Supervisor’s Report is submitted after the specified deadline.

Late reports will not be accepted unless you’ve been granted an extension through an Application for Special Consideration^* (DOC).

Special Consideration must be applied for prior to the Supervisor’s Report deadline. You can also submit a letter of explanation to support your application.

Applications will be assessed against the criteria outlined in the Special Consideration for Assessment Policy (PDF).

^* As outlined in the Progression Through Training Policy (PDF), section 4.6.9:
‘Training will not be certified where the trainee has not satisfactorily completed all training requirements for the prospectively approved training period by the relevant deadline(s), or during an extension period if granted by the committee.’

Resources

Online Supervisor's Report
Multi-factor authentication
Education policies

Requirements

Requirement

12-month position (full-time and part-time trainees)

1 x Supervisor’s Report for the first 6 months of the training year due by 15 July
1 x Supervisor’s Report for the last 6 months of the training year due by 31 January in the following year

6-month position or less (separate supervisors or separate sites)

1 x Supervisor’s Report completed for each rotation:
- Due 15 July for rotations in the first half of the year
- Due 31 January for rotations in the second half of the year

In your final clinical training year, we recommend submitting your last Supervisor's Report before the 31 January deadline to avoid delaying certification of the training period.

If your supervisor hasn’t directly supervised you throughout the whole rotation, your supervisor should obtain individual reports from those who have and submit a composite report.

You are to ensure all supervisors receive a copy of the Supervisor’s Report. Previous copies of Supervisor’s Reports must be provided to your next supervisor.

Resources

Clinical Genetics online Supervisor's Report (RACP login required)
Online Supervisor's Report FAQs
Supervisor Details Amendment Form (DOC)

More information

Education policies
RACP Online Learning resources
Trainee support

Forms and resources

Curricula

Clinical Genetics Advanced Training Curriculum (PDF)
Clinical Genetics and Genetic Pathology Reciprocal Training Arrangement Trainee guide 2023 (PDF)
Professional Qualities Curriculum (PDF)

Advanced Training Portal

Forms and reports

Specialty societies

Human Genetics Society of Australasia

The Human Genetics Society of Australasia (HGSA) was formed in 1977 to provide a forum for the various disciplines collected under the title of Human Genetics. The HGSA is a full member of the International Federation of Human Genetics Societies and holds an Annual Scientific Meeting each year, with visiting international and national speakers.

Australasian Association of Clinical Geneticists

The Australasian Association of Clinical Geneticists (AACG) is the peak professional body representing clinical genetics physicians/paediatricians in Australia and Aotearoa New Zealand.

RACP resources

Trainee support is available through the Training Support Pathway, assisting you in navigating the progression through training process and reporting on your progress to your training committee.

RACP Online learning resources is home to all online learning opportunities for trainees, with its range of online learning courses, resources and interactive learning content. It also hosts:

College Learning Series is an interactive online resource specifically targeted to the needs of Basic Trainees.
Curated collections are learning resource guides based on the contributions and peer review of RACP Fellows and other experts.

Pomegranate Health podcast is a monthly medical podcast created by physicians, for physicians.

Evolve is a physician-led initiative to ensure the highest quality patient care through the identification and reduction of low-value practices and interventions.

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