Genetic carrier screening: implications of greater accessibility

Offering genetic carrier screening to all women/couples who are planning a pregnancy, or who are in the early stages of pregnancy, has been a recommendation from The Royal Australian and New Zealand College of Obstetricians and Gynaecologists since 2019.

In November 2023, Medicare introduced new MBS items to fully rebate the cost of essential carrier screening tests covering three conditions: cystic fibrosis (CF), spinal muscular atrophy (SMA) and fragile X syndrome (FXS).

Essential reproductive genetic carrier screening is an important test that will allow people planning a family, or in the early stages of pregnancy, to make informed choices according to their own personal wishes and values.

Increased access to reproductive carrier screening may lead to an increase in cases where members receive claims and complaints, alleging they failed to offer any screening, to adequately explain the limitations of the tests, or to offer more complete screening. GPs and other doctors who see patients considering pregnancy, need to offer suitable advice, and keep clear records of these discussions.

High anticipated uptake

Given the widespread community acceptance of other government‐funded screening tests in pregnancy, particularly first trimester biochemical screening and pilot programs, uptake of this genetic screening test is expected to be high. Medicare has suggested that around 85,000 people each year are expected to benefit.¹

The majority of these people will be relying on their GP to let them know about the availability of the test and to provide them with some basic pre-test counselling that will help them decide whether to go ahead.

What's covered

Essential reproductive genetic carrier screening of individuals who are pregnant or are planning a pregnancy, and their reproductive partners, can determine their reproductive risk of having a child affected by one of the three conditions: cystic fibrosis, spinal muscular atrophy and fragile X syndrome.

The new MBS items cover sequential reproductive genetic carrier screening – the female reproductive partner is tested first, and the reproductive partner is only offered testing following the identification of an autosomal recessive variant in the female.

• MBS Item 73451 covers the initial screening of the female who is pregnant, or planning pregnancy
• MBS Item 73452 covers the subsequent screening of the male reproductive partner for either CF or SMA, when detected in the female.

The test should be offered irrelevant of symptoms or family history, and is covered once in an individual’s lifetime. If couples choose to test simultaneously, only the female partner will be eligible for the Medicare rebate and an out-of-pocket fee will apply for the male partner.

Women and their partners may choose to undergo screening for an expanded panel of several hundred genetic disorders. The cost for this is not covered by Medicare.

When to offer reproductive carrier screening

Information about carrier screening should be offered to all women or couples regardless of family history and ethnicity during pre-conception or early in the pregnancy.

Around 5% of Australians are genetic carriers of at least one of the three conditions in the screening, with one in 240 couples both carriers.

Ideally, this information is made available pre-pregnancy. Identifying carrier couples before pregnancy provides them with a greater range of reproductive options if they find they are genetic carriers. These include:

• in-vitro fertilisation (IVF) with pre-implantation genetic testing 
• use of donor gametes
• prenatal diagnostic testing.

When screening occurs after pregnancy is established, the woman/couple have fewer options and will face having to make important decisions about how to proceed within a limited time frame.

Couples with a known family history of a genetic condition should be offered genetic counselling ahead of testing, as more extensive panels than those available under the Medicare-rebated reproductive genetic carrier screening may be necessary to identify their risk profile.

Screening tests are optional

Reproductive genetic carrier screening should only ever be offered as opt‐in. Women/couples need to be provided with information which allows them to make an informed choice about this screening option.

The decision to undertake screening is a personal choice to be made by the individual/couple. It is important to document whether patient accepts (and capture their consent), or declines, to undergo these tests. Management of patients who decide they do not wish to be tested can be similar to how you currently manage women who decline antenatal non-invasive prenatal testing (NIPT).

Follow up genetic counselling

Individuals who consent to the screening should be given the opportunity to prepare for a clinically significant result and consider the decisions they might need to make in relation to a current or future pregnancy. In addition, they should be made aware of the limitations inherent in any form of screening test. This includes explaining the difference between a screening test and a diagnostic test, and making it clear that a negative screening test does not guarantee a child will be born healthy.

Individuals or couples identified as high risk may be referred to a clinical genetics service or obstetrician to discuss reproductive options. Most companies offering reproductive carrier screening will provide at least one genetic counselling session.

Provide information and keep records

It’s important to stay up to date with ongoing developments in this area, and to provide patients who are considering pregnancy with information – both verbally and something they can read later.

Any discussion regarding genetic screening should be supported with written information, such as the fact sheet available from the Centre for Genetics Education, or content provided by the provider conducting the test. A record should be made of the information provided, including the version number if relevant. Any patient concerns should also be discussed and documented. At the next visit it is worth checking whether the patient has read the information and whether they have any questions. This discussion should be documented in the records.

Future developments in this area

Genetic screening is a rapidly evolving area. As part of the Mackenzie’s Mission project, a recently published study demonstrated the feasibility of expanding the national screening program to include an extended panel of genes. This study provided insights on the psychosocial effects on participants, the acceptability of screening to all participants, and the reproductive choices of persons identified as having an increased chance of having a child with a condition for which they were screened.²

Key points

• All prospective parents now have access to Medicare-funded essential reproductive genetic carrier screening.
• Claims for compensation and complaints about your care may arise if you don’t discuss the availability and implications of carrier screening.
• By continually updating your knowledge of the latest advances in available testing, you will be well-placed to offer the appropriate testing and advice to your patients.
• Document all verbal and written information you provide to patients.

More information

For medico-legal advice, please contact us here, or call 1800 128 268, 24/7 in emergencies.

Avant article on NIPT: Antenatal DNA blood tests: patient communication implications

Patient fact sheet: Reproductive_carrier_screening-fact_sheet-CGE.pdf

Consumer information: About reproductive genetic carrier screening | Mackenzie’s Mission

MedicineToday article: Genetic carrier screening in pregnancy: Informing patients