COLUMN: New MUN study aims to better understand the burdens and impacts of living with hereditary cancer

“Cancer runs in the family.”

You have probably heard these words before. It simply means that there are multiple individuals affected by cancer in the same family. Sometimes, such a feature can indicate that there is a genetic reason for it (“hereditary cancers”). That is, the risk for developing cancer is strongly influenced by genetic features, such as “genes” or “mutations.”

We frequently hear of families in Newfoundland and Labrador (NL) where cancers run in the family. Family history of the disease, as well as clinical characteristics may alert physicians about the probability of a genetic condition.

That’s why a new study is looking into this further.

Hereditary cancer syndromes (HCS) affect over 200,000 Canadians, some of which face a 100 per cent risk of developing cancer in their lifetime.* Hereditary cancers affect hundreds of people in NL This new study will explore the economic and psychosocial impacts and burdens of these conditions on Canadians, including patients in our province.

Why is studying hereditary cancers important?

Once one knows their cancer risk, they can decide what to do about it.

For example, individuals may decide to get regular medical screening to identify pre-cancerous cells, which may then be removed from the body before they have a chance to develop into a tumor.

Sometimes, individuals decide to remove at risk and non-essential organs, such as breasts, ovaries, or colon. Sometimes, there are other decisions made.

What is important is that genetic knowledge informs screening and care for individuals and their families. Since the genetic knowledge and medical procedures can help decrease the risk of developing cancer significantly, sometimes they are life-saving.

Despite these benefits, there are differences in access to genetic testing and ongoing follow up care across the country. The system of care to access and coordinate investigations for patients with a hereditary cancer can be very complex.

Consider a patient who has recently learned she has hereditary breast and ovarian cancer syndrome caused by a pathogenic variant the gene BRCA1. She has a lifetime breast cancer risk of over 80 per cent, and is also at increased risk for ovarian cancer, pancreatic cancer and melanoma, and will require complex care over her lifetime.**

She now needs to undergo multiple investigations for surveillance, and consider prophylactic surgery of her breasts and ovaries.***

Yet, she has no family doctor and does not know to whom to turn to coordinate her care. She lives in northern Labrador and to access specialty care, she must travel, take time off work, and find a caregiver for her young children. She worries about her children de ella and about her siblings de ella living in other provinces, who are waiting for genetic testing to learn whether they too carry the BRCA1 variant.

Since the genetic knowledge and medical procedures can help decrease the risk of developing cancer significantly, sometimes they are life-saving.

What can this study reveal?

Cancer itself can result in substantial out-of-pocket costs, psychosocial concerns and social concerns such as stigma and discrimination. Little research has explored the economic and psychosocial costs among patients with hereditary cancer syndromes whose cancer journey requires burdensome follow-up over their lifetime due to numerous at-risk organs.

These burdens are layered on top of the emotional distress and uncertainty of living with an inherited condition, risks to family members, and social concerns such as genetic discrimination. The burdens of hereditary cancer syndromes are often unaccounted for and underestimated.

Newfoundland and Labrador (NL) researchers Drs. Holly Etchegary, Lesa Dawson, Sevtap Savas and Jane Green are part of a national research project that aims to describe the economic and psychosocial impacts of living with a hereditary cancer syndrome (HCS) across three provinces ( ON, BC, and NL).

Phase 1 of the study consists of a small number of one-on-one interviews with patients to help gather rich information about living with an inherited cancer.

The second phase of the study will consist of online surveys of all patients in NL who carry inherited cancer mutations.

Researchers hope that the results of this study will allow the identification of provincial differences in the social and economic burden of hereditary cancers which could inform policy, health care and social system interventions to improve care and lessen inequities.

To learn more or to take part:

Interested individuals who have confirmed Lynch syndrome or hereditary breast/ovarian cancer syndrome (BRCA1 or BRCA2) can contact research assistant Brooklyn Sparkes at [email protected] or 709-777-9066, or the study lead, Dr. Holly Etchegary, at 709-864-6605 or [email protected]

This study is funded by a team grant from the Canadian Institutes of Health Research (Grant # 202105INS-464786-INS-CEAJ-129583).

Dr. Holly Etchegary is an associate professor in the Faculty of Medicine at Memorial University whose research program explores the impact of hereditary conditions. She is the provincial lead for this study, with Drs. Sevtap Savas, Jane Green, and Lesa Dawson also contributing.

* Ngeow J, Eng C. Precision medicine in heritable cancer: when somatic tumor testing and germline mutations meet. NPJ Genom Med. 2016;1:15006. doi:10.1038/npjgenmed.2015.6

** Petrucelli N, Daly M, Pal T. BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer. Text. GeneReviews® [Internet]. 2016/12/15 2016;doi:

*** National Comprehensive Cancer Network (NCCN). NCCN clinical practice guidelines in oncology V.1.2020: Genetic/familial high-risk assessment: breast, ovarian, and pancreatic. . NCCN Clinical Practice Guidelines 2019.

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