Recommendation 7

Recommendation 7. Facilitate health promotion, reproductive choices, and preventive measures for both genetic and non-genetic rare diseases as some rare diseases may be preventable, or their impact reduced through these measures.

Recommendation 7.1

Apply the principles of health promotion and prevention where relevant to rare diseases, including infectious diseases, cancers, and autoimmune disorders.

Why this is important:

Health promotion is the process of encouraging and enabling people to increase control over, and to improve their health.128 Rare diseases can have a range of causes, including genetic, autoimmune, infectious agents, and environmental factors (such as asbestos exposure).

Delivery of relevant primary prevention measures can reduce the incidence of rare diseases, whereas delivery of secondary to quaternary prevention measures through early diagnosis, evidence-based action, and person-centred communication can ameliorate or minimise the manifestations and burden of rare diseases.

Population- and individual-based preventive interventions for rare diseases may include:

  • Enabling reproductive genetic counselling and preimplantation genetic diagnosis (primary prevention)
  • Facilitating early, rapid, and accurate diagnoses of rare diseases, for example, through prenatal and newborn screening (secondary prevention)
  • Coordinating with a Centre of Expertise (Recommendation 3.1) and implementing best management guidelines to reduce or prevent complications of rare disease (tertiary prevention)
  • Protecting individuals from interventions that are more likely to cause harm, such as providing accurate information on the risks of advertised interventions with no evidence of therapeutic effect. For example, stem cell tourism (quaternary prevention).

How to progress Recommendation 7.1:

Understand and work in partnership with people living with rare disease and their families to promote the importance of preventive measures for rare diseases and the best opportunities for action. Such measures are listed below.

  • Comprehensive prenatal and pregnancy care: This includes screening and advice which could reduce the chance of, or result in, early detection and management of a range of rare diseases. A checklist may be helpful to guide the screening process, such as the PLaN checklist from the Royal Hospital for Women, Sydney.129 As part of this process, referral to appropriate specialists may be required, including to a maternal fetal medicine unit and/or clinical genetics service. More details are provided in Appendix 2.27 and Appendix 4.
  • Antenatal testing and screening: This should be offered to all women as part of their first trimester screening. Additional prenatal testing should be offered to those who require further testing (Appendix 2.27 and Appendix 4).
  • Registration of congenital anomalies: Fetuses and babies with congenital anomalies (live births, stillbirths, and terminations of pregnancy) should be reported to the relevant registry (Appendix 2.14). This allows for the collection of high-quality data for primary prevention of rare diseases impacted by medicinal drugs, food/nutrition, lifestyle, health services, and environmental pollution.
  • Newborn screening programs: These programs should be offered to all parents. The newborn bloodspot test screens babies for a range of conditions, including phenylketonuria, congenital hypothyroidism, and cystic fibrosis. Newborn hearing screening can detect hearing loss. Early action can lead to better results for the baby or prevent serious illness (Appendix 2.28).
  • Routine child health nurse developmental checks: These checks should be undertaken as they can detect early signs of a rare disease (Appendix 2.28).
  • Appropriate immunisations: Facilitation of all immunisations according to the National Immunisation Program Schedule is important to prevent rare infectious diseases such as measles, polio, and tetanus.130 Additional immunisations as described in the Australian Immunisation Handbook (Appendix 2.29) should be offered where appropriate to people with medical conditions (for example, people with Down syndrome, premature babies, and immunocompromised individuals).130 Additional immunisations should also be offered to those with environmental risk factors (such as farm animal handlers or people living in areas where Mycobacterium ulcerans is present).
  • Occupational health and safety: Occupational history is important to understand if people may have been historically or currently exposed to environmental agents that can cause rare diseases (such as asbestos, industrial chemicals, dusts, or metals) (Appendix 2.30).

Individual-based secondary prevention strategies can also ameliorate or minimise the manifestations and burden of rare diseases through early diagnosis and action.

Families with several members who have had specific cancers (often breast, ovarian, or bowel cancer) or individuals with multiple cancers diagnosed at an unusually young age should be offered a referral to a family cancer clinic.131 The eviQ guidelines from Cancer Institute NSW can help guide risk assessment and referral, as well as provide plain English fact sheets for families (Appendix 2.30).132

Genetic counselling and information on individual risk, including cascade testing and relevant management, should be offered to relatives at risk of inherited genetic conditions. See the Centre for Genetics Education website for details of local clinical genetics services (Appendix 2.2).

Recommendation 7.2

Facilitate understanding of and access to testing and technologies to support reproductive confidence.

Why this is important:

Reproductive testing and technologies include reproductive carrier testing, preimplantation genetic testing, and prenatal ultrasound, screening and genetic testing. These tests and technologies are increasingly able to provide couples with personalised information about the chance of having a baby with a rare congenital condition. This includes genetic conditions such as cystic fibrosis and conditions that may not have a genetic aetiology such as isolated congenital heart disease.

All women should have access to individualised, evidence-based preconception, antenatal, and perinatal care that offers screening for, and management of, risk factors for genetic and non-genetic rare diseases.133,134

On average, each person is a carrier of about two different genetic variants linked to inherited genetic conditions. In addition, a significant proportion of rare congenital conditions are preventable with non-genetic measures, such as nutrition, weight and lifestyle advice, folic acid and iodine supplementation, immunisation status review, medication review, and optimisation of chronic medical conditions.

How to progress Recommendation 7.2:

All couples should be supported in their preparation for a healthy pregnancy according to guidelines from the Royal Australian and New Zealand College of Obstetricians and Gynaecologists135 and the Royal Australian College of General Practitioners.136

This includes (Appendix 2.31 and Appendix 4):

  • Stabilisation of any medical problems
  • Discussion of reproductive genetic carrier screening
  • Updating vaccination status
  • Lifestyle recommendation regarding health, weight, folate supplementation, and substance use.133,137

For couples concerned about medication or potential teratogens, consultation with or referral to a specialist teratogen or drug information service138 (Appendix 2.27) is recommended.

A family history should be taken from couples planning a pregnancy, with referrals made to clinical genetics teams for genetic counselling if a history of inherited conditions is identified. Reproductive options for couples who are at an increased chance of having a child with a genetic and/or rare condition should be referred to a genetics and maternal-fetal medicine team. Information on reproductive choices, screening and testing, as well as contact details for local genetics services can be found at the Centre for Genetics Education (Appendix 2.31).54

Preconception and early pregnancy screening and care should be non-directive to allow people to make informed reproductive choices and access health care in line with their wishes and values. Supportive counselling is important, as many people choose to have screening or testing to help them prepare to deliver their baby in an appropriate centre, rather than to inform decisions about continuing a pregnancy.

As the availability of prenatal and perinatal treatment for rare diseases is increasing, connection with a Centre of Expertise is important to ensure the most up-to-date advice and treatment is offered (see Recommendation 3).139 Families may value speaking to someone with lived experience of a rare condition whilst making reproductive choices, so connection to patient support and advocacy groups can be helpful (see Recommendation 4).

Indicators of good practice

• Practicing preventive medicine and health promotion related to rare diseases
• Offering, or supporting the offering of, screening and testing including preconception carrier screening
• People living with rare disease report that matters relating to sensitive topics, such as heritable genetic conditions and the privacy of genetic information, are handled with sensitivity
• Data contributed to congenital anomaly registers
• Adherence to best practices for antenatal care, immunisations, and screening programs
• Facilitation or support of cascade testing offered to family members, where appropriate
For useful tools and supports to help implement Recommendation 7, see Appendix 2.2, 2.14, 2.27-2.31, and Appendix 4.