Tools and resources to facilitate family health history collection and assessment.

The best way to identify red flags is by taking a family history (in addition to a personal health history).

 

	click here to read more about why family history is important and tips.
	click here for red flags that suggest that an individual (or his/her/their family) may be at increased risk for a genetic condition.

 

General family history tools:

A family health history records the health conditions of an individual and their biological relatives (alive and deceased), helping to identify genetic and heritable risks for certain diseases. It is often depicted through a family tree or pedigree.

Important  information and questions

• Try to obtain a three generation history (grandparents, parents, patient’s generation, siblings and cousins or Parents, patient’s generation, their children)
• Ask ages: current age, age at death
• Ask about health conditions, age of onset/diagnosis 

 

	Red Flags for a genetic condition (general)
	Figure 3. Final family health screening questionnaire.   Emery JD, et al. Development and validation of a family history screening questionnaire in Australian primary care. Ann Fam Med. 2014 May-Jun;12(3):241-9. Full text available at: https://www.annfammed.org/content/12/3/241.long  Posted with permission from Dr. Emery and Reprinted with permission under the CC BY-NC-ND license https://creativecommons.org/licenses/by-nc-nd/4.0/.
	My Family Health Portrait: A family history tool from the US Surgeon General
	A patient facing tool that helps create personalized booklets to start conversations about health in one’s family and community developed by the Genetic Alliance

 

Disease specific tools:

After a general, three-generation family history is obtained, if there are red flags (e.g. multiple affected relatives, young age of diagnosis, see this point of care tool for more) you can use the tools below to complete a more targeted history can help to identify those who may qualify for modified screening (e.g. starting earlier, more frequent, alternate modality), a genetic assessment and/or genetic testing.  

Some tools have been developed by GECKO, some are developed by others and are freely available online, and some were developed in collaboration with GECKO as part of a randomized control trial, FHAMe (more on this project below)*.

• Cancer (general)
  • Heredtiary breast/ovarian cancer
  • Hereditary Colorectal/Lynch syndrome
  • Prostate cancer
  • Skin cancer
  • Renal cancer
• Cardiovascular disease
  • Sudden unexplained death
• Diabetes

Cancer

Characteristics of an individual/family at increased risk of hereditary cancer

	click here for the GECKO tool with red flags to identify those persons with risk of a Hereditary Cancer Syndrome most likely to benefit from a referral to genetics or a more targeted family history (disponisble en français)
	an online guide to understanding personal cancer risk for some of the most common types. This is for patients and was developed by Cancer Care Ontario.

 

Hereditary Breast/Ovarian Cancer

	GECKO point of care tool (two parts)
	Family history clinical decision support tool for risk assessment and management  breast/ovarian cancer*

 

About 5-10% of breast cancer and about 15% of ovarian cancer is due to inherited genetic change(s). Pathogenic variants in the BRCA1 or BRCA2 genes are the most common cause of hereditary breast and ovarian cancer (HBOC). Pathogenic variants in these genes are associated with a significant increased lifetime risk for breast, ovarian, and other cancers. Additional genes are known to be associated with increased lifetime risk for these cancers and can impact screening and medical management. Genetic testing generally involves a large gene panel where several (>7) genes associated with breast/ovarian in addition to other cancers are analysed. 

1. While not all individuals will qualify for genetic testing, some will qualify for modified cancer screening and a more appropriate relative (the youngest, affected individual) may be offered genetic testing.
2. Individuals with a personal and/or family history that are at high risk (generally >5%) to carry a pathogenic variant in a hereditary breast/ovarian cancer gene can be offered referral to genetic services for a discussion of the benefits, harms and limitations of genetic testing, while women whose family histories suggest a low risk of a hereditary predisposition can be reassured and offered screening following provincial guidelines.
3. (For more information see the comprehensive GECKO deep dive or the concise GECKO on the run

 

Hereditary colorectal cancer/Lynch syndrome

 

	GECKO point of care tool (two parts)
	Family history clinical decision support tool for risk assessment and management - colorectal cancer*

 

Lynch syndrome (LS), also known as Hereditary Non-Polyposis Colorectal Cancer (HNPCC), is the most common hereditary colorectal (CRC) cancer predisposition syndrome. It is an autosomal dominant condition that causes a significant increased lifetime risk of CRC and endometrial (uterine) cancer in addition to other cancers. Individuals suspected of having LS should be referred for a genetic consultation for consideration of genetic testing. Screening, surveillance and management of CRC and other cancers should be guided by genetic test results and/or family/ personal history. Studies show that conversations between patients and their healthcare providers are the strongest driver of screening participation. (For more information see the GECKO deep dive or the concise GECKO on the run).

Because of overlap in clinical presentation of hereditary cancer conditions and  advances in genomic technology, testing generally involves a large gene panel where several (>5) genes associated with colorectal and other cancers are analysed. 

Prostate cancer

Family history clinical decision support tool for risk assessment and management - prostate cancer*

 

Skin cancer

Family history clinical decision support tool for risk assessment and management - skin cancer*

 

Hereditary Renal Cell Cancers

GECKO point of care tool

Outlines how to identify those patients most likely to benefit from referral to genetics for assessment of a hereditary renal cell cancer syndrome including brief summary of renal cell carcinoma syndromes

 

Cardiovascular disease

	GECKO familial hypercholesterolemia point of care tool
	GECKO factor V Leiden point of care tool
	Family history clinical decision support tool for risk assessment and management - cardiovascular disease*
When there is a family history of sudden unexplained death
	GECKO hypertrophic cardiomyopathy point of care tool
	GECKO long QT syndrome point of care tool
	GECKO heritable thoracic aortic disease point of care tool

 

Diabetes

	Family history clinical decision support tool for risk assessment and management - diabetes*
	Related resources:   GECKO hereditary hemochromatosis point of care tool (e.g. family history of diabetes, liver disease)
	GECKO on the run Diabetes

 

*These family history clinical decision support tools were developed and evaluated as part of the project Family History App in Personalized Medicine (FHAMe).  The aim of FHAMe was to determine if an innovative family history strategy will improve healthcare delivery, specifically what proportion of intervention patients have updated documentation of family history in the EMR, and to describe contextual factors that may influence implementation of this novel family history approach into primary care. Manuscripts in preparation.

• Investigators: Carroll JC, Greiver M, Kukan S, Bearss E, Walji S, Moineddin R, Aliarzadeh B, Ivers N, Kalia S, Allanson J, Grunfeld E, Gupta K, Heisey R, Kavanagh D, Kim R, Levy M, Morrison S, Muraca M, Mutasingwa D, O’Brien MA, Permaul J, Sullivan F, Wilson B