genomics in maternal health education program
TRANSCRIPT
Genomics in Maternal Health –Prenatal testing and screening
In maternal medicine, technologies developed during the genomics revolution have;
• Enabled NIPT testing• Significantly improved understanding of
developmental conditions• Improved understanding of comorbidities in
pregnancy (such as inherited cardiac conditions)
• Enabled pre-conception screening (to predict risk for pregnancies with severe genetic conditions)
• Identified new conditions, or clarified subtypes of conditions to enable specific treatment strategies
• Increased the rate of diagnosis of rare disease (while individually rare, rare conditions as a group are common)
Genomics in the maternal health journey
Carrier screening
Pre-implantation testing
1st trimester screening
Non-invasive prenatal testing
2nd trimester screening
Diagnostic testing
Carrier screeningTesting the parents to determine the risk of a resulting pregnancy having an inherited condition
Mackenzie's MissionSupporting the broad implementation of pre-conception carrier screening
Mackenzie’s Mission is a research study examining the utility of reproductive genetic carrier screening across Australia. The screening gives prospective parents information about their likelihood of having a child with a severe genetic condition.
• $20 million Department of Health research project
• 10,000 couples being offered preconception screening as part of the project
• Selected general practices and specialists will have the opportunity to enroll patients
• Comprehensive analysis of outcomes and acceptability
• Long term hope to embed into routine care
Pre-implantation testingThis is a process that occurs during IVF, that can enable diagnosis of an embryo before implanting. This can enable selection of a health embryo
Pre-implantation testingFor some genetic conditions, the carrier status of parents can be determined before conception which can reveal the chances of conceiving a baby with that condition.
Preconception testing is designed to detect carriers of recessive conditions BEFORE having children to identify the risk of transmitting a genetic condition.
https://www.eggdonors.asia/blog/preimplantation-genetic-screening-pros-cons-pgs-cost/
Prenatal testingThere are a number of genetic and genomic tests that can be undertaken during pregnancy, however this includes tests for both screening and diagnostic purposes.
Screening versus Diagnostic Testing
A screen and a diagnostic test are different in the reliability of the result
According to UK Department of Health (2021), the primary purpose of a screening tool is to determine the risk factors for a disease in a large cohort of otherwise healthy individuals
If appropriate, a diagnostic test is used to ascertain the presence or absence of a disease, and therefore establish a treatment plan based on the result.
SCREENPopulation based search
for potential disease
TESTPatient focussed verification of a
suspected disease
Screening
Diagnostic
Simple, accessible, sensitive, but varied accuracy (positive predictive value)
Sensitive and accurate, but can come with risk and significant cost
Sensitivity and Specificity – what do they REALLY mean
Sensitivity = What proportion of patients with disease will be detectedSpecificity = What proportion of healthy patients will have a negative testPositive Predictive Value = How often is a positive result really a patient with disease
Sensitivity/Specificity and Positive Predictive Value Medmastery Movies
SENSITIVITYWill all the disease patients be detected?
PREDICTIVE VALUEHow many positive patients really have
the disease?
SPECIFICITYWill normal patients all be negative?
TEST RESULTS
Prenatal Screening and Diagnostic Testing
It’s important to know:• correct timing for screening and diagnostic
options• the accuracy of individual screening methods• the timing for and risks associated with diagnostic
testing• the specific test required for a diagnostic answer
If a screen is suggesting high risk of a condition, diagnostic testing is
required to confirm the diagnosis.
Optimal Timing of Screening
Prenatal testing – NSW specific but applicable to other states.
E-book copy
NIPT vs 1st trimester screen
NIPT 1st trimester screenHighly sensitive Reasonably sensitive (less
than NIPT though)
Still requires morphology scan
Via PAPP-A, can inform placental health
1st Trimester Screen – NIPT – What is it?
• NIPT is a screening test during early pregnancy to assist in detecting Down syndrome and other chromosome conditions
• A definite diagnosis of a chromosome condition in the baby can only be made following a prenatal diagnostic test (CVS or amniocentesis) or neonatal blood test
• The test is safe with no risk to mother or baby
• The accuracy of NIPT tests is high although not 100%
• NIPT is optional
• Currently only offered through private pathology laboratories/specialist centres at a cost to the patient – no Medicare rebate is available
• There are multiple different laboratories performing NIPT, each with different testing options
NIPT – an exciting new screening method
Sensitive BUT varying specificity (will have +ve result, or high risk result when foetus does not have disease) – is NOT a diagnostic testPatients may turn up with a result, having little understanding of what it meansCounselling before the test is crucial to understand the risks
Approximately 1/3 of mothers are currently having this testing, despite it being entirely self funded (around $400)
1st Trimester Screen – NIPT – What is it?
Centre for Genetics Education NIPT Fact Sheet
NIPT is very sensitive at detecting some abnormalities (detects nearly all cases of trisomy 21) but the positive predictive value (accuracy of a positive result) varies depending on the specific test, the particular condition and patient’s background risk. Patients should be informed of the implications of a test so that they can consent fully to the procedure. It may be that a patient will present with NIPT results, and not be aware of these implications.
Positive
1st Trimester – NIPT Results
NEGATIVEPOSITIVE
Harmony Sample Report Booklet.pdf (harmonytest.com)Some example NIPT results
* Please note these video’s discuss that Invitae offers genetic counselling for no additional charge and you can reach out to them, this is only when people use Invitae and Invitae is not currently offering NIPT in Australia
An example NIPT result
Sample details
Result details
Summary of result (high risk result supports referral)
More specific detail of result, probability indicating likelihood of each specific abnormality tested
Fetal sex, sex chromosome aneuploides, microdeletions and other chromosome abnormalities
may be included.
Each company has a slightly different method of calculating and reporting probability, and it is important to interpret what this means for the patient's actual risk (e.g. what is the likelihood that this high risk result will
be confirmed by diagnostic testing).
If a screen is suggesting high risk of a condition, diagnostic testing is required to confirm the diagnosis.
Diagnostic (Invasive) Testing
AMNIOCENTESIS CHORIONIC VILLUS SAMPLING (CVS)
Confirms diagnosis after a high risk screening result (regardless of screening method)
Resources for PatientsGenomic Information Toolkit for Patients - is a resource developed by QLD Genomics to assist patients in engaging with their genetic and genomic healthcare. Along with the Toolkit, the website contains information and further links to benefit patients in engaging and understanding their genomic care journey.
Your Blood, Your Story is a short animation to yarn about DNA, genes and genetics health and the Indigenous Genomics Health Literacy Project has a number of pdf resources with local artwork that explain genes, genetic testing and the QLD Genetic Health Queensland Service
Centre for Genetics Education - Individuals and Families - Pregnancy Resources - have many australian relevant resources and tipsheets on genomic testing and genetic conditions
Resources to help you with supporting prenatal screening and testing
Centre for Genetics Education - NSW government Centre for Genetics Education has a number of resources for both patients and health professionals.
Online Genomics Foundations modules – The Genomic Institute Genomics Foundations online course aims to develop the fundamental knowledge and competencies in genomics, to supporting healthcare professionals in the adoption of genomics in clinical practice. The modules are facilitated by a collaboration with the QLD Clinical Skills Development Service, and you can access these by their online platform. You will need to register to receive access.
Health Education England Genomics Education Programme - A comprehensive and practical program developed through the UKs National Health Service. The Health Education England Genomics Education Programme has both basic training for free and more in depth online modules for a very small subscription fee.
National Human Genome Research Institute Genomics Education Websites -The National Institute of Health educational resources encompass a wide range of tools and topicscompiled by experts. The Genomics Education Websites provide extensive support and information on genetics and genomic health related topics.
Melbourne Genomics Health Alliance - The Melbourne Genomics Health Alliance learn-genomics platform provides genetic and genomic testing learning resources for before,during and after testing.
Genetic Alliance Australia is a charity that provides peer support for those affected by a genetic condition and rare disease.
Indigenous Genomics Health Literacy Project has developed two health resources specifically designed for Aboriginal and Torres Strait Islander consumers and health workers.All funded by Queensland Genomics and developed as part of the QIMR Indigenous Health Research Program.
Clinical Practice Guidelines, Position Statements and Care Pathways | The Centre of Research Excellence in Stillbirth (stillbirthcre.org.au)
In addition there are online MOOCs (Massively online open courses) and a number of graduate and postgraduate tertiary courses of many types and lengths
If you are interested in further learning, please do not hesitate to contact [email protected] and we will assist
Genetics in Pregnancy course and the Genomic Institute Education Hub
Click the Image above to be redirected to the Genomic Institute site
The Genomic Institute is a new initiative supporting the integration of Genomic and Genetic Care across all areas of health care in Queensland/
Genomic Institute – support of mainstream genomic care
If would like advice or information on the use or process of genetics and genomics in Maternal Health Care (and across mainstream medicine), please do not hesitate to contact the Genetic Counsellors and Genomic Experts at
The Genomic Institute(07) 3646 9533 [email protected]
Refer to Genetic Health Queensland – specialist genetic service
Genetic Health Queensland (GHQ) is a statewideservice that provides clinical genetic services across
Queensland.
GHQ requires a written referral from the patients doctor and provides diagnosis, counselling, and management advice to individuals and families who have, or are at risk of having, a genetic or inherited condition, including in pregnancy.
The service prioritises prenatal referrals based on the Clinical Prioritisation Criteria (CPC). If you would like to know more about the process of referring a patient in pregnancy, please visit GHQ online.
Click the Image above to be redirected to the Genetic Health Queensland site
Genomics will enable better care across the maternal
journey
THANK YOU