Adult Onset Genetic Disease ProgramGenetic Family History Printer Friendly Page

With the increasing information on the effect of genetics on adult diseases, taking and evaluating a family history is becoming an ever more important part of medical practice. In an effort to aid physicians in providing this service we have developed several family history forms which can be used in clinical practice.

There are two basic approaches to a family history form. The first one offered here provides a complete list of medical conditions. It differs from most other similar forms in that it asks which family member(s) are actually involved. This has the potential to save considerable time in evaluating the risk for the patient. Its effectiveness will depend in large measure on the information the patient actually knows, and this of course is quite variable. However, no family history evaluation can be perfect. This should not prevent a reasonable effort to discover as many manageable disorders as possible for every patient.

The second form is a much shorter version which focuses on those conditions for which there are known, testable and treatable heritable genetic risks. The principle issue with this list is that will have to be updated as new genetic risks are identified. We will make every effort to ensure that the form offered here is updated as required.

Family History Forms

Complete Family History Form (Complete List of Medical Conditions) (PDF:346KB)
Abridge Family History Form (List of Treatable Heritable Genetic Risks) (PDF:125KB)

Recommended Treatments (for Physicians)

FDR - First degree relatives (parents, sibs, children), this includes the patient

SDR - Second degree relatives (grandparents, aunts, uncles, 1st cousins, nephews and nieces)

The following recommendations have been reproduced with permission from the BMJ Publishing Group: A Review & Compilation of Risk Assessment Criteria, H Hampel1, K Sweet1, J A Westman1, K Offit2 and C Eng1 J. Medical Genetics 2004:41:81-91.

High Risk - Recommend genetic counseling.

Moderate Risk - Increased surveillance.

Breast/Ovarian Cancer - If positive, ask the following:

• SDR’s affected
• Age of onset
• Unilateral vs. bilateral
• Ethnicity - Ashkenazi Jewish or not.

Breast/Ovarian Cancer (Non-Jewish Families) - High risk breast-ovarian Any of the following:

• (1) case of breast cancer 40 y in an FDR or SDR 1 FDR or SDR with both breast and ovarian cancer, at any age
• (2) cases of breast cancer in FDRs or SDRs if one is diagnosed at 50 y or is bilateral
• (1) FDR or SDR with breast cancer diagnosed at 50 y or bilateral and (1) FDR or SDR with ovarian cancer
• (3) cases of breast and ovarian cancer (at least one case of ovarian cancer) in FDRs and SDRs
• (2) cases of ovarian cancer in FDRs and SDRs
• (1) case of male breast cancer in an FDR or SDR if another FDR or SDR has (male or female) breast or ovarian cancer

Moderate risk breast Any of the following:

• (2) FDRs if both diagnosed between 51 and 60 y
• (1) FDR and SDR (mother or sister and maternal aunt or maternal grandmother), if sum of their ages is 118 yModerate risk ovarian 1 FDR with ovarian cancer

Breast/Ovarian Cancer (Jewish Families) - High risk breast-ovarian Any of the following:

• (1) case of breast cancer 50 y in an FDR or SDR 1 case of ovarian cancer at any age in an FDR or SDR 1 FDR or SDR with breast cancer at any age if another FDR or SDR has breast and/or ovarian cancer at any age
• (1) case of male breast cancer in an FDR or SDR

Colon Cancer - If positive, ask the following:

• SDR’s affected
• Age of onset

High risk HNPCC Any of the following:

• (3) FDRs or SDRs affected with any HNPCC associated cancers*; all cases can occur in one generation, no age restriction 1 FDR or SDR with two or more HNPCC associated cancers* 1 FDR with CRC <50 y Moderate risk colon 1 FDR with CRC 50 and one SDR with CRC at any age 2 FDRs with CRC 50 at any age

Other cancers: If positive, ask the following:

• SDR’s affected
• Age of onset

Polyposis - Polyposis Any FDR or SDR with >10 polyps

Melanoma - High risk melanoma 3 FDRs or SDRs affected with melanoma and or pancreatic cancer, at least two generations (must include more than one case of melanoma) 1 FDR or SDR with multiple primary melanomas Moderate risk melanoma 1 FDR with melanoma

Li-Fraumeni Syndrome - High risk Li-Fraumeni All of the following: 1 FDR or SDR with sarcoma, brain, or adrenal cancer diagnosed at <45 y; and 1 FDR or SDR with sarcoma, breast, brain, adrenal or leukaemia at any age; and 1 FDR or SDR with any cancer diagnosed at <60 y

Multiple Endocrine Neoplasias/Thyroid Cancer - High risk MEN 1 2 cases of pancreatic (islet cell) cancer, parathyroid (hyperplasia) and/or pituitary adenoma in FDRs or SDRs (can be same person) High risk thyroid/MEN 2 Any of the following: 2 cases of thyroid cancer in FDRs or SDRs 1 FDR or SDR with thyroid cancer and 1 FDR or SDR with parathyroid (hyperplasia) or adrenal cancer (can be same person) Moderate risk thyroid 1 FDR with thyroid cancer

Familial Aggregation of Other Cancers - High risk cluster Any of the following: 3 cases of the following cancers in one genetic lineage: bladder, brain, endometrial, oesophageal, kidney, lung, mouth or throat, multiple myeloma, pancreatic, sarcoma, stomach, other skin cancers, testicular, haematological malignancies (in FDRs or SDRs)

Single Cases of Cancer Requiring Cancer Genetic Consultation - A single case of: medullary thyroid cancer, adrenocortical carcinoma, pheochromocytoma, paraganglioma, Wilms tumor, or retinoblastoma

Any suggestion of unexplained sudden cardiac death, long QT syndrome or hypertrophic cardiomyopathy should be considered for referral for genetic counseling.

A person with a personal history of a thrombotic event should be evaluated for possible Factor V and Prothrombin mutations. Protein S, protein C, and antithrombin deficiencies should also be considered. A person with a family history of thrombosis should also be considered for testing. It is always preferable to test the affected family member first if they are available and willing.

Iron overload associated with a genetic predisposition may be detected on routine screening with elevation in transferrin saturation (TS) or in the context of a symptomatic patient (diabetes, cardiomyopathy, liver dysfunction). Note that age, gender, and ethnicity may impact on the onset of iron overload. patients and their siblings should be given DNA mutation analysis. Siblings testing positive should be monitored for TS.

These conditions are linked to mutations on factor V, Prothrombin and MTHFR. Since the phenotype of each of the gene mutations is similar, patients should be tested for all three genes. Remember that male FDR's are also at risk for other problems related to mutation in these genes.

History of birth defects should prompt a referral for genetic counseling.

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