Reality not hype: the new genetics in primary care

Session III: workshops

3. Antenatal screening

Facilitator: Allison Streetly (NHS Sickle Cell and Thalassaemia Screening Programme)

“The challenge of timely offer of screening in early pregnancy (or preconceptually), and the engagement of primary care, are key for the success of these programmes, but this requires major changes in the way maternity services and primary care are organised ”. Allison Streetly, 2002.

Presentation

The aims of this workshop were to explore antenatal screening issues and the perspective from primary care. The following key points were made in the presentation:

•  The Department of Health is committed to implementation of effective and appropriate screening programmes for women and children. These include the following antenatal programmes:

•  Down syndrome;

•  Sickle Cell and Thalassaemia;

•  Cystic Fibrosis (time scale not set)

•  Infectious disease programme

•  Screening Policy is made with advice from the National Screening Committee.

•  NICE provides guidelines for practitioners

•  The Women and Childrens NSF is due out later this year.

For all these screening programmes there has been considerable variation in testing (involving questions around ethnicity, age, consent etc) and standardisation of policy and practice is required.

•  There has been no national consideration given yet to pre-conceptual testing, which can be more acceptable than antenatal screening.

•  Both public and professionals need greater awareness and access to education. As public understanding improves, it will drive professional progress.

•  Education and training to support the antenatal programmes should cover: policy for each area; genetics knowledge; communication; cultural competence; counselling of screen positives and onward referral; organisation and delivery of services in local area.

•  The ethical framework is important: antenatal screening relates to assessment of the mother and the risks to her health, as well as assessment of the foetus.

•  Informed decision-making includes:

•  Right to decide to opt for termination of pregnancy in some situations (some grey areas – e.g. timing and the severity of the condition);

•  Right of woman to decline the screening offer;

•  Right of professional to acknowledge their own personal value framework – and refer patients elsewhere.

•  Risks and tensions

•  screening for recessive conditions will lead to detection of carriers. Are the public and primary care ready for this? The long-term role of GPs in family care means they are well placed to manage carriers and to provide pre-conceptual testing at first visit or when contraceptive advice is sought.

•  Stigma of carrier status must be handled with effective professional and public education.

•  The way that the identification of affected pregnancy is presented, accepted and received in different communities needs to be appreciated by professionals.

Issues highlighted during discussion

Professional aspects:

•  This GP workshop clearly emphasised the need for more professional education on the ‘nuts and bolts’ of different screening programmes (aims, potential benefits and harms of different programmes; the types of diagnostic tests used and mutations that will be detected; whether carriers will be identified; clear justification of the timing of different screening approaches). It is also important that health professionals understand the treatment/management of the conditions that are being screened.

•  When is the right time to screen? Pre-conceptual screening is perceived to be more acceptable than antenatal. However, as a GP in Tottenham highlighted, her surgery has detected many sickle cell carriers, but very few couples come forward pre-conceptually –therefore questioning the value of having this information in advance of pregnancy.

•  A GP from Essex questioned the need for universal screening of all newborns for sickle cell disease especially in areas with a lower percentage of visible minority ethnic groups. The increased incidence of sickle cell disease amongst mixed populations was however highlighted. There are considered to be large numbers of thalassaemia and sickle cell carriers in London - is primary care ready to take this on?

•  Newborn screening for cystic fibrosis will also raise similar issues, which will identify carriers as well as affected offspring. The numbers of carriers identified are very small and should not be a problem for primary care or regional genetics centres, but how will the parents of a carrier or affected offspring be managed? At present it is proposed that regional genetics centres will be engaged, with referrals from primary care.

•  A consequence of antenatal screening that professionals need to be prepared for is that it will raise paternity issues.

Patient/public aspects:

Two broad areas were raised during discussion: information needs and the outcomes of testing.

1. Greater information needs of patients/public have been highlighted by ‘Right from the Start’. It found that families feel they are not given adequate information about screening and the support groups and services available. http://www.rightfromthestart.org.uk/ . The audience also agreed that the public requires more education prior to screening. For example, post-natal tests (blood spot / heel-prick test) should be explained during pregnancy.

Levels of uncertainty associated with test results must be clearly conveyed, including explanations of false positives and false negatives, although depending on how this is done it can disillusion people about screening. There is a need for a standardised approach to consent, as procedures vary widely and women can even not know they are being screened. Informed decision making is required.

2. Outcomes of screening. Knowledge of carrying an affected child may help families to prepare for the consequences. However, there can be stigmatisation of affected children and their families. A parent commented that families with more than one child with cystic fibrosis are heavily criticised for having “knowingly” risked a second affected pregnancy. Other challenges faced by parents are illustrated by this parent's child asking whether, if an antenatal test had been done before s/he was born, would s/he have been aborted?

Ultimately, it is the right of the woman or the couple to decide whether to go ahead with, or terminate, an affected pregnancy. This decision, however, impacts on social care budgets. In addition, parents are not always advised of the long-term care and support their affected child will need. Population screening programmes must have in-built adequate support systems available for these families.

Contact A Family (CAF) reported at the workshop that families often feel that they are pressured to terminate, or denied a test unless they agree to terminate if the test is positive. Antenatal Results and Choices (ARC) highlighted that parents are often isolated because they feel that professionals provide very little support in their decision-making. ARC provides a help line (0207 631 0285) which is open 9-5pm.