The Health Information and Quality Authority has today (18 April 2013) published the results of its health technology assessment (HTA) on the monitoring of women aged less than 50 years of age who are at a higher risk of breast cancer due to a genetic predisposition or a strong family history.

HIQA has advised the National Cancer Control Programme (NCCP) on the implementation of an organised surveillance programme for women under age 50 in Ireland who are known to be at elevated risk of breast cancer due to these genetic and/or family history factors.

Dr Máirín Ryan, Director of HTA at HIQA, said, “Surveillance for these women can reduce the number of deaths compared to no surveillance. Women at high risk tend to have more aggressive tumours, so early detection is critical. For those women who have been identified to be carriers of certain genetic mutations, HIQA concluded that surveillance for women from ages 30 to 49 using annual magnetic resonance imaging (MRI) is cost-effective. From ages 40 to 49, the addition of an annual mammogram may also be considered.”

In another small cohort of women who have a high probability of breast cancer before age 30 (TP53 mutation carriers), annual MRI surveillance from age 20 to 49 is the optimal strategy recommended by HIQA.

For women at high familial risk, but with no identified genetic mutations, and those at moderate risk, surveillance is not cost-effective compared to offering no surveillance. However, HIQA concluded that if the goal is to maximise health gain using existing resources and taking account of current international practice, then annual surveillance using mammograms from ages 40 to 49 is better than the current arrangements.

Dr Ryan continued: “The surveillance programmes recommended in the assessment would lead to a modest reduction in the cost to the health service compared to the existing arrangements. Given that fewer than 5,000 women in Ireland are identified as being at elevated risk, the resource and budget implications of a surveillance programme are estimated to be relatively modest.”

The HTA report further examined ethical issues that may be associated with a decision whether or not to adopt organised surveillance in Ireland.

Dr Ryan concluded, “Without a structured programme, the availability and type of surveillance offered varies across the country, giving rise to inequitable care. An organised surveillance programme would improve equity of access. The performance of such a programme should also be monitored to ensure it provides the expected benefits and meets international standards.”

The Board of the Authority has approved the HTA report and it has been submitted to the NCCP for consideration.

A full copy of the report, executive summary and technical report are available here.

Further Information: 

Marty Whelan, Head of Communications and Stakeholder Engagement, Health Information and Quality Authority, 01 814 7481 / 086 244 7623, mwhelan@hiqa.ie

Notes to the Editor: 

• For a full copy of the report please go to www.hiqa.ie. You can also find us on Facebook and Twitter by searching ‘HIQA’.
• HIQA is the statutory organisation in Ireland with a responsibility to carry out national health technology assessments (HTAs) and to develop guidelines for the conduct of HTAs across our healthcare system.
• Cancer screening refers to monitoring those at average risk of a disease, while surveillance refers to the monitoring of those known to be an increased risk of the disease.
• Breast cancer is the most common invasive cancer diagnosed in women in Ireland and the second most common cause of cancer death in women. In women aged less than 50 years, there are approximately 660 new cases of breast cancer diagnosed and 90 deaths each year.
• An estimated 1 in 4 cases of breast cancer relate to a familial risk.
• Approximately 1 in 15 of all cases relate to a genetic predisposition – these women typically develop cancer more than 20 years earlier than the general population. The lifetime risk of developing breast cancer is 1 in 10 for the general population; for women who are carriers of specific genetic mutations, lifetime risks of up to 8 in 10 are reported.
• In Ireland, there are approximately 360 women aged less than 50 years who have been identified to be at high risk of breast cancer because they are carriers of specific genetic mutations such as BRCA1, BRCA2, and TP53. There are approximately 4,200 women identified to be at elevated (moderate or high) risk because of familial factors.
• A woman will typically be considered high risk if two or more first degree relatives (e.g. mother, sister) had breast cancer before the age of 50. A woman would be considered at moderate risk if one first degree relative had breast cancer before the age of 40. Risk level is also determined by other factors including genetic predisposition, family history of ovarian cancer or male breast cancer and paternal history of breast cancer.
• Internationally recommended surveillance imaging options include digital mammography, magnetic resonance imaging (MRI) or a combination of the two, although currently there is no consensus as to the optimal design of a surveillance programme.
• The estimated budget impact of managing cases with no surveillance is €1.7 million over five years. The approach recommended to the National Cancer Control Programme by HIQA is estimated to cost an additional €819,000 over five years, compared to an additional €908,000 over five years for existing ad hoc monitoring.
• The majority of women with a family history of breast cancer will not be at substantially increased risk. Women who are concerned should consult with their GP who can advise if they need to be referred for further assessment.