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FAMILY HISTORY
ABSTRACTS
Family-Centered
Approaches to Understanding and Intervening in Coronary
Heart Disease
Sharon L.R. Kardia, PhD,
Stephen M. Modell, PhD, Patricia A. Peyser, PhD
University of Michigan, Ann Arbor
Family history represents the unique genomic,
ecologic, and gene-environment interactions that affect the metabolic
profile and life course of a family and its members. It is well known that a strong
family history of coronary heart disease (CHD) is a significant
predictor of an individual’s risk of CHD even after adjusting for an
individual's own established risk factors such as hypertension, smoking,
and abnormal lipoprotein levels. The explanation for this familial
disease aggregation is not well understood except for the general
knowledge that genetic and environmental factors predisposing to CHD
also aggregate in families. Given
the multifactorial nature of an individual’s risk, it can be argued
that an individual’s familial risk of disease may, in fact, be a
better indicator of the many complex interactions among genetic and
environmental factors that predispose to disease than can be captured by
an individual's own risk factors. Issues of how to assess, quantitate,
and apply family history information in clinical settings still need to
be resolved. Some clinical risk indicators such as the NCEP III
guidelines take into account family history while others, such as the
Framingham Risk Score, do not. Moreover, several family-centered
intervention studies have demonstrated the particular advantages of
focusing on families rather than just individuals.
Although there has been tremendous progress in primary prevention
of CHD over the last 20 years, substantial advancements may still be
achieved by focusing on the family as its own unit of inference and as a
specific target for disease prevention.
Family History of Colorectal Cancer
Robert Millikan, DVM, PhD, Tope Keku, PhD, University of North
Carolina, Chapel Hill
Epidemiologic
studies consistently observe an approximate two-fold increased risk of
colorectal cancer in persons having one or more first-degree relatives
with the disease (Potter, 1993).
Studies of extended pedigrees in Utah (Cannon-Albright 1994)
found that the excess familiality was 1.3 for colon cancer,
approximately the same as for breast and the other common epithelial
cancers. Twin studies
(Lichenstein, 2000) suggest a heritability of 35% (95% CI 10%-48%) for
colon cancer, within the range observed for breast and prostate cancer. Colon cancer often occurs in aggregation with other
cancers, including ovarian cancer and breast cancer.
The
aggregation of colon cancer in families may be due one or more causal
explanations (segregation
of major genes, aggregation of minor genes, aggregation of environmental
factors, and interactions between minor genes and environmental
factors), as well as non-causal explanations:(chance and bias).
Causal explanations.
Major genes.
The identification of familial syndromes that include colon
cancer was initially reported by Lynch and co-workers in the 1970s.
Several genes have been identified that account for these
syndromes: the list includes APC as locus of susceptibility for
Familial Adenomatous Polyposis Coli, and a group of mismatch DNA repair
genes (including hMSH2, hMLH1) as loci of susceptibility for
Hereditary Non-Polyposis Coli. Taken together, highly penetrant mutations in
these genes probably account for at most 15% of colon cancer cases in
the general population.
The contribution of more common, less-highly penetrant alleles in
these and other major genes have not been fully investigated.
Minor genes.
Common, low-penetrance polymorphisms in a variety of metabolism
genes have been associated with increased risk of colon cancer,
including N-actyltransferases 1 and 2 (NAT1, NAT2) and
methylenetetrahydrofolate reductase (MTHFR).
Polymorphisms in DNA repair genes and other loci are
the subject of continued investigation.
Many of these low penetrant alleles appear to exhibit greater
than additive joint effects with diet and other environmental risk
factors for colon cancer.
Non-causal
explanations
Some
of the aggregation of colon cancer in families could be due to chance or
bias. Strict criteria for defining family history (e.g.
Amsterdam criteria for HNPCC) have fairly high sensitivity and
specificity for identifying high-risk kindreds.
However, the informativeness of family history within
population-based studies has not been well studied.
Aitken (1995) reported that the sensitivity and specificity of
reported family history of colon cancer are less than 100 percent, and
misclassification is usually differential, but the degree of
misclassification is "unlikely to inflate estimates sufficiently
materially alter conclusions from case-control studies."
Research priorities:
Pharoah et al. (2002) recently
showed that risk of breast cancer in women who do not carry mutations in
BRCA1 or BRCA2 is mostly likely attributable to multiplicative
interactions among minor genes. Such a polygenic model may also apply to colon
cancer. Potentially,
there may be groups of common polymorphisms that once identified, can
differentiate high-risk from low-risk persons in the general population.
Combinations of genotypes and traditional risk factors (such as
diet) may have practical value for risk evaluation and designing
interventions to prevent colon cancer in the general population. In the absence of comprehensive knowledge of
these genes and environmental factors, family history may serve as a
useful proxy for identifying high-risk individuals.
However, studies that determine the extent to which family
history of colon cancer can be attributed to currently identified genes
and environmental factors are needed, as well as additional studies to
examine the contribution of misclassification and other sources of bias.
Can Family History of Type 2 Diabetes be
used as a tool for Public Health?
Karen
Edwards, PhD, University of Washington
RCM Wines, T. Harrison, LA Hindorff, H. Kim
Given the substantial
morbidity and mortality associated with Type 2 diabetes it is important
that public health seek ways to delay or prevent the onset of this
condition. Risk factors for Type 2 diabetes are well established,
including underlying genetic susceptibility. Despite this knowledge as
well as significant advances in understanding the human genome, the
prevalence of Type 2 diabetes continues to rise at an alarming rate.
Because Type 2 diabetes is a complex condition and likely involves a
combination of genetic and environmental factors, DNA testing for this
condition is not yet warranted. However, because family history reflects
underlying genetic susceptibility, in addition to other factors, this
may be a useful public health tool for disease prevention. There are
several important issues that need to be considered when evaluating
family history as a public health tool. These issues, including the
accuracy of recall by family members, analytic and clinical validity,
clinical utility, ethical, legal and social issues, as well as potential
unintended consequences will be outlined and discussed. Areas for future
research based on current limitations in knowledge will be identified.
History
as a Potential Tool in Asthma Prevention
Wylie Burke, MD, PhD, Megan D.
Fesinmeyer, Eleanor K. Reed
University of Washington
Epidemiological
studies document parental or sibling history of asthma as a risk factor
for asthma. However, the
strength of the association and its correlation with specific clinical
outcomes has varied. Differences
in populations studied, methods for obtaining or defining a positive
family history, and documentation of asthma or related clinical
endpoints may account for some variation in the estimated effect of
family history. In
addition, little is known about interactions between family history and
known environmental risk factors. Further
understanding of the relationship between family history of asthma and
asthma outcomes could be of value to public health efforts in asthma
prevention. Family history
represents a potential tool to identify children at risk, in order to
provide targeted prevention efforts.
In addition, selection of patients at increased risk via family
history could improve the power of clinical and epidemiologic studies.
However, the use of family history information for asthma
prevention requires a careful evaluation of
(1) family history in the context of other known risk factors,
including genetic polymorphisms associated with asthma risk and
environmental contributors to the disease; (2) the efficacy of
intervention programs based on family history; and (3) the meaning
applied to family history risk information by patients and health care
providers. Family history
of asthma is likely to be most useful as a prevention tool if it can be
shown either to identify a subset of patients at high risk who would
benefit from intensive prevention efforts or to motivate behavioral
change to decrease environmental risk.
Documenting
the Family Health History: An Overview of Available Tools
Kristin Peterson Oehlke, MS, CGC,
ATPM-CDA
Office of Genomics and Disease Prevention, CDC
Family
health history information is collected and used by medical
professionals, families and others for a variety of reasons such as
medical risk assessment, preventive screening, adoption and other social
situations, research and genealogy. Family history tools are available in multiple formats, each
tailored to collect the type and complexity of information required.
The available tools may provide a foundation for developing
family history tools suitable for use in public health practice. This
presentation will provide an overview of family history tools that are
currently available, their relevant features and their intended
applications.
Family
History as a Tool for Risk Assessment in Public Health Research and
Practice and in Preventive Medicine
Hoda
Anton-Culver, PhD, University of California, Irvine
Background.
While
family history information on cancer is collected in clinical and
research settings and is used to infer risk of the disease in
population-based, case-control, cohort, or family-based studies, little
information is available on the accuracy of a proband’s report.
In this study we sought to validate the reporting of family
history of cancer by cancer-affected probands in population-based and
clinic-based family registries of breast, ovarian, and colorectal cancer
Methods. To
assess the accuracy of reported family history of cancer in the
relatives of probands, we compared the family history from the personal
interview of the proband to a gold standard that included pathology
reports or self-reports from the relative or death certificates on
deceased relatives. Our study included 670 breast cancer families, 123
ovarian cancer families, and 318 colorectal cancer families that
accounted for 3222 relatives of probands.
To account for the within-family correlations on the responses,
we used a generalized estimating equation (GEE) approach.
Results: Estimates
of sensitivity varied across cancer sites and by degree of relation to
the proband. In particular, sensitivity of the proband’s personal
interview among first-degree relatives was 95.4% (95%CI 92-6-98.3) for
female breast cancer, 83.3% (95%CI 72.8-93.8) for ovarian cancer, 89.7%
(95%CI 85.4-94.0) for colorectal cancer and 79.3% (95%CI 70.0-88.6) for
prostate cancer. Sensitivity of the proband’s personal interview among
second-degree relatives fell to 82.4% (95%CI 76-6-88.2) for female
breast cancer, 44.1% (95%CI 30.9-57.3) for ovarian cancer, 57.8% (95%CI
49.5-66.0) for colorectal cancer and 66.7 (95%CI 55.1-78.2) for prostate
cancer. In addition to the relative’s degree of relationship to the
proband and age at diagnosis of the proband, the best predictor of
reporting accuracy was the mode of ascertainment of the proband, with
clinic-based ascertained probands more accurate compared to
population-based ascertained probands.
Conclusion:
We found high reliability for most cancer sites among
first-degree relatives and moderate for second- and third-degree
relatives. Over-reporting of cancer was rare (2.4%). Race/ethnicity and
sex of the proband did not influence the accuracy of reporting. However,
degree of relationship to the proband, age at diagnosis of the proband,
and source of ascertainment of probands were statistically significant
predictors on accuracy of reporting.
Family History Collection and Pedigree
Analysis
Maren T. Scheuner, MD, MPH,
Cedars-Sinai Medical Center
The systematic collection of family
history information currently appears to be the most appropriate
approach for identification of individuals with a genetic susceptibility
to most common diseases. A
positive family history is common among many chronic conditions and it
is quantitatively significant (King et al., 1992).
For many common diseases it is one of the greatest risk factors
with relative risks ranging from 2 to 10 times those of the general
population as seen in Table 1.
Furthermore, for most common diseases, an even greater increase
in relative risk is associated with an increasing number of affected
relatives, as well as earlier ages of disease onset.
Qualitative characterization of risk can also be accomplished by
reviewing the family history. Characteristics
of a high-risk family history include multifocal or bilateral disease,
higher rates of disease recurrence, and the occurrence of related
diagnoses. Recognition of these quantitative and qualitative familial
disease risks has important implications for identifying family members
at risk, arriving at the appropriate diagnosis, and for recommending
appropriate genetic tests as well as individualized management and
prevention for those individuals.
Accuracy
of family history information has been investigated for coronary heart
disease, diabetes, hypertension and several cancers.
In assessing the reliability of reported family histories of
myocardial infarction, Kee et al. (1993) performed a case-control study
in which reported histories of first-degree relatives were validated
using death certificates, physician records, and hospital records.
In the 174 cases, the sensitivity, positive predictive value, and
specificity of a reported history of infarction in first-degree
relatives were 67.3%, 70.5%, and 96.5%, respectively.
These values did not differ significantly from the corresponding
figures for the 175 controls (68.5%, 73.8%, and 97.7%, respectively).
In this study, only small differences were observed between odds
ratios based on reported and verified data, indicating that neither
misclassification nor recall bias had a substantial impact on the
measurement of the effect of the family history. In a study assessing the accuracy of family history reports
of diabetes, Hispanic and non-Hispanic white patients and controls were
interviewed at clinic visits (Kahn et al, 1990). Verification of these
reports was obtained by subsequently interviewing family members.
There was complete agreement between the information given by the
proband regarding diabetic status and answers given by the respective
family members. The
Family Heart Study also characterized the validity of reports of
coronary artery disease, diabetes and hypertension by probands (Bensen
et al., 1999). Using a
relative’s self report as a standard, the sensitivity of the
proband’s report for coronary artery disease was 85% and 81% for
parents and siblings, respectively.
The report for hypertension was 76% and 56% for these relatives,
and for diabetes it was 87% and 72%, respectively.
Most specificity values were above 90%.
Love
and co-workers (1985) have studied the accuracy of patient reports of a
family history of cancer. Verification
of cancer histories was done by reviewing pathology and operative
reports, hospital admission and discharge summaries, death certificates,
and autopsy reports. Verification
of negative histories was not performed. The accuracy of cancer site
identification by the participant was 83.7% in first degree, 71.3% in
second degree, and 71% in third degree relatives.
Participants were correct in 91% and 89% of the cases for all
relatives in which they reported breast and colon as the primary sites,
respectively. For first-degree relatives, 94% of reported breast cancer
cases and 93% of colon cancer cases were confirmed.
For pancreas, lung, and liver as the primary cancer site, the
accuracy rates of cancer reports were less at 75%, 60%, and 5%,
respectively.
Overall,
these studies suggest that a positive family history report can
generally be used with a high degree of confidence for the
identification of individuals who may be at increased risk for
developing disease. The lower sensitivity values do indicate some under-reporting
of disease in relatives; thus, a negative report should not be used as
an indicator of a minimum or decreased disease risk (below the general
population risk).
Estimates
for the frequency of family history reports among cases with several
common diseases are available in the literature (Table 1). However, knowledge of the prevalence of family history
reports of common diseases among individuals within the population at
large, is necessary for shaping policy regarding genetic risk assessment
for these conditions. The
population frequency of average, moderate, or high risk family history
reports for heart disease, stroke, hypertension, diabetes, and colon,
breast, ovarian, endometrial and prostate cancers have been determined
by reviewing pedigrees obtained by genetic counselors in a prenatal
diagnosis clinic (Scheuner et al., 1997a). The population consisted of
400 "healthy,” employed, middle-class people age 18 to 66 years.
None of the consultants were seeking counseling because of a
family history of one the chronic disorders under study.
Forty-three percent (170) reported a family history of at least
one of the selected common disorders (130 individuals were at risk for
one disorder, 33 were at risk for two, and 7 were at risk for 3).
Depending on the specific disorder, most consultands had an
average risk (general population risk) for any given disorder,
approximately 5 to 15% were at moderate risk (2 to 3 times the
population risk), and 1 to 10% were at high risk (risks approaching
those associated with Mendelian disorders). Family history of
cardiovascular diseases, including coronary artery disease, stroke and
syndrome X, were most common and reported by 34% of consultands.
Family history of cancer was reported by 8% of the consultands
and several individuals had histories suggestive of dominant cancer
conditions.
The genetic evaluation or risk
assessment for common diseases typically begins with pedigree analysis.
The pedigree structure is created and information for each family
member is collected. Demographic information is documented including each
relative’s name, current age or age at death, locale, and ethnicity.
Medical history is documented for each family member including
age at diagnosis and known interventions or procedures.
Information is also collected regarding important risk factors
for a disease, such as smoking for heart disease or emphysema.
Validation of the medical history of each family member is
performed by reviewing records when possible.
After collecting the family history a qualitative assessment of disease
risk can be performed which might include a differential diagnosis for
identified familial traits. For
example, when considering an inherited form of breast cancer there are
at least six different genetic syndromes that can feature breast cancer,
including site-specific breast cancer, breast-ovary syndrome, Li-Fraumeni
syndrome, Cowden syndrome, Peutz-Jeghers syndrome and HNPCC (Hoskins et
al., 1995). The types of
cancers and other conditions reported in the family distinguish each of
these syndromes. Mutations
in different genes may underlie the genetic susceptibility in these
syndromes and genetic testing can help to confirm a suspected diagnosis.
Thus, estimation of the probability that genetic testing will
provide information that will change the risk assessment and management
and prevention of disease should also be discussed as part of the risk
assessment and diagnosis process.
Quantitative risk assessment can also be performed for specific
conditions relating to the family history using mathematical models or
published estimates (Gail et al., 1989; Amos et al., 1992; Claus et al.,
1991; Claus et al., 1993; Benichou, 1993; Schildkraut et al., 1989).
For example, in the case of breast cancer a woman’s empiric
risk based on the family history of breast and/or ovarian cancer can be
provided and she can contrast this to the population risk and the risk
that would be associated with an inherited cancer susceptibility
mutation. However, most
estimates using these models and algorithms have limitations and they
should not be the only means for risk assessment.
Thus, accurate genetic diagnosis and risk assessment requires the
expertise of professionals who are familiar with the characteristics of
genetic susceptibilities to common disease, the differential diagnosis
of a suspected disease susceptibility, the resources available for
determining disease risk based on a family history, as well as the
likelihood that genetic testing may be useful in risk assessment,
diagnosis and planning management and prevention.
Participation
in effective early detection and prevention strategies should have
significant benefit for individuals with a genetic susceptibility to
common diseases. Under-utilization
of these services by genetically susceptible individuals has been
documented (Scheuner et al., 1997b).
A genetic risk assessment survey of 176 managed care members
found that the only significant predictor of cholesterol screening was
advanced age (p=0.05). Gender, ethnicity, time since last visit to the doctor, and
family history of cardiovascular disease (heart disease, stroke, and
carotid, aortic or peripheral vascular disease), diabetes, or a
cholesterol abnormality were not predictive of who was likely to have
had cholesterol checked. Similarly,
participation in mammography, sigmoidoscopy, fecal occult blood testing
and serum prostate-specific antigen testing was associated with older
age rather than a cancer family history.
This included individuals from hereditary colon cancer and
high-risk breast and ovarian cancer pedigrees.
Among the respondents to the mailed genetic risk assessment
survey, 53 charts from 15 primary care physicians selected randomly were
reviewed for family history. This
included data collected from 223 patient visits (4.2 visits per patient)
that occurred over the 5-year period prior to the mailing of the survey.
Among the charts reviewed, 39 belonged to subjects who gave
self-reports of a family history of at least one common disease; the
physician documented this family history in only 36%. The
number of first-degree relatives that were reported by patients as
having one of the conditions under study was 115, compared to only 23
documented by the physician. The corresponding number of self-reported
affected second-degree relatives was 213, and the physicians documented
only 4. The type of disease did not influence the family history
documentation by the physician; they were dismal across all disease
categories.
Failure of the primary care physician to collect the appropriate family
history data appears to be an important factor that
precluded adequate genetic risk assessment and access to appropriate
preventive services for subjects with a genetic susceptibility to many
common, chronic conditions. Acheson
et al. (2000) have found that family practice physicians discuss family
history about half of the time during new patient visits, and only 22%
of the time during established patient visits.
This included discussion of “family issues” that might
represent a broad range of topics in addition to medical issues.
The quality of information collected was likely limited (although
this was not determined) since the average duration of family history
discussions was less than 2.5 minutes.
Only 11% of patients’ records included a family tree.
This was probably due to the limited time available for a patient
visit, 10 minutes. It is
estimated that construction of a pedigree in the family practice setting
obtained via semi-structured interview takes 15 to 20 minutes.
In a survey of 339 primary care providers in the United
Kingdom the majority felt a need to provide genetic services (Suchard et
al., 1999). However, only 29% felt sufficiently prepared to take family
histories and draw pedigrees and only 15% felt prepared to counsel
patients about genetic test results.
Almost two-thirds would participate in training and education
regarding genetics and would participate in providing genetic services,
yet not all were willing to provide these services.
For practitioners who do feel comfortable with transmitting
genetic information, the increased time demands required to research the
family history and provide genetic counseling (Surh et al., 1995) may
act as disincentives to routinely offering adequate genetic risk
assessment.
Thus, rather than providing comprehensive genetic services
for patients with complex genetics service needs, the role of the
primary care provider should include: 1) identification of patients who
may benefit from genetic services, 2) provision of basic genetic
information to facilitate the referral process, 3) recognition of the
special psychosocial issues for a family with a genetic condition, and
4) coordination of care and monitoring of health (Hayflick et al.,
1998). Primary care
providers' lack of general knowledge in genetics (Hoffman et al., 1993)
may preclude appropriate referrals to genetic professionals for genetic
risk assessment, counseling, and when appropriate, DNA testing (Hayflick
et al., 1998). This is compounded by incentive arrangements that reward
"gate-keeper" physicians to limit patient access to specialty
referrals and treatments (Swartz and Brennan, 1996). Unfortunately, there are a limited number of professionals
who are trained in genetics (Rowley et al., 1995), and this may be the
most significant factor in related to provision of clinical genetic
services for common diseases. Clinicians
may also be reluctant to pursue genetic risk assessment for their
patients since evidence regarding the efficacy and utility of using
genetic information in disease management and prevention is limited.
This lack of evidence should not, however, deter clinicians from
utilizing genetic information regarding common disease, as it clearly
has value in providing risk information and in many instances can guide
decision making for disease management and prevention.
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Disease
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Prevalence of familial disease
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Characteristics of “high-risk” families
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Risk associated with family history
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References
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Coronary artery disease (CAD)
|
In families of male cases with
myocardial infarction (MI )before age 45, 38% had first-degree
relatives with premature CAD (before age 60).
In families of male patients who had undergone coronary
artery bypass graft surgery (CABG), 68% had at least one
first-degree relative with CAD and 18% had three or more
affected first-degree relatives. In female patients with CABG, 82% had at least one
first-degree relative with CAD and 34% had three or more.
|
Early
onset CAD (under 55 in males and 65 in females); multiple
affected family members, especially females; multi-vessel
disease; refractory to conventional risk factor modification;
multiple family members with coronary artery disease,
diabetes, hypertension, and lipid abnormalities.
|
Males with a parental history of
MI or death from CAD have a 2-fold increase in risk of CAD
even after adjustment for traditional risk factors.
Females with a parental history of MI at or before age
60 have a 2.4-fold increased risk of non-fatal MI and 4.9-fold
increased risk for fatal MI even after adjustment for
traditional risk factors. Risk to first-degree relatives
increased 5-fold if proband is male and less than age 60;
7-fold if proband is female and less than age 70.
Heritability estimates for CAD before age 50 are
estimated to be 90-100% and for later onset disease, 15-30%.
|
Scholtz et al., 1975; Colditz et
al., 1991; Colditz et al., 1986;
Thomas and Cohen, 1955; Rose, 1964; Slack and Evans, 1966;
Rissanen, 1979; Scheuner 2001.
|
Stroke
|
Thirty-eight percent to 47% of
patients with stroke have first-degree relatives with history
of stroke; 48-73% have first-degree relatives with history of
ischemic heart disease
|
Early age of onset, multiple
family members with stroke and/or ischemic heart disease.
Single gene disorders associated with ateriovenous
malformation and cavernous angiomas; intracranial aneurysms
(e.g., polycystic kidney disease, Ehleres-Danlos type IV,
Marfan syndrome); hereditary forms of amyloid angiopathy or
hypertension; and hereditary coagulopathies.
|
2-fold increase associated with
first-degree relative affected with stroke.
2 to 3-fold increase associated with first-degree
relative affected with ischemic heart disease.
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Graffagnino et al., 1994; Kiely
et al., 1993; Spriggs et al., 1990; Alberts, 1990.
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Type 2 Diabetes
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In Hispanic families with type 2
diabetes, 29% have affected first-degree relatives; 13% have
affected second-degree relatives; 11% have affected
third-degree relatives.
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Early onset of diabetes (between
ages 25 and 40); multiple family members with diabetes;
aggregation of other characteristics of insulin resistance
including hypertension, dyslipidemia, premature
atherosclerosis.
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In Hispanic families, 2-fold
increase associated with affected first-degree relatives,
1.3-fold increase with affected second-degree relatives.
In Caucasian families, 3-fold increase associated with
affected first-degree relatives.
|
Mitchell et al., 1994; Keen and
Track, 1968; Köbberling and Tattersall, 1982; Walker, 1999.
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Osteoporosis
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Forty-seven percent of female and
33% of males with osteoporosis have a family history.
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No significant phenotypic
differences between familial and non-familial cases including
age at diagnosis, gender, osteoporosis-related fracture, and
bone mineral density scores.
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Maternal history of hip fracture
associated with 2-fold increase in risk of hip fracture.
33% of mothers and 6% of fathers of cases are affected
with osteoporosis. Heritability
of peak bone mass at lumbar spine, 90% and at femoral neck,
70%.
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Henderson et al., 2000; Evans et
al., 1998; Pocock et al., 1987; Krall and Dawson-Hughes, 1993.
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Breast Cancer
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Five to 20% of women with breast cancer report a family
history of breast cancer, of these about half are consistent
with a high familial risk.
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Early onset breast cancer (typically before age
50), multiple family members with breast cancer, bilateral
and/or multifocal disease, and male breast cancer are features
of an inherited susceptibility due to a highly penetrant
single gene mutation. The
occurrence of other cancers in a breast cancer patient or her
family members might suggest a known hereditary breast cancer
syndrome such as thyroid cancer and Cowden syndrome, ovarian
cancer and hereditary breast/ovarian cancer, and sarcoma,
adrenal tumors, and CNS malignancies and Li-Fraumeni syndrome.
|
The risk of breast cancer in a woman with a first-degree
relative with breast cancer is increased about 2.5-fold.
Women with only a second-degree relative affected with
breast cancer have a 1.8-fold increase in breast cancer risk,
and women whose nearest relative is a third-degree relative
have a 1.35-fold increase compared to women without a family
history. Women
with a first-degree relative affected with bilateral breast
cancer have about a 3-fold increase in breast cancer risk, and
women with an affected first-degree male relative have a
2-fold increase in breast cancer risk.
A family history of prostate, endometrial and ovarian
cancer also increase the risk of breast cancer in first-degree
relatives. The
relative risk of breast cancer for Ashkenazi Jewish women with
a first degree relative with breast cancer is 3.8 compared to
non-Jewish women with a risk of about 1.7.
|
Slattery and Kerber, 1993; Hoskins et al., 1995; Anderson
and Badzioch, 1993; Schildkraut et al., 1989; Claus et al.,
1993; Scheuner et al., 1997; Egan et al., 1996.
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Ovarian Cancer
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Approximately 5% of ovarian cancer cases report a family
history and about 20% of these familial cases are consistent
with a high familial risk.
|
Ovarian cancer in at least two close family members may be
consistent with an inherited susceptibility due to a highly
penetrant single gene mutation.
High risk/hereditary ovarian cancer may be classified
as site-specific ovarian cancer, breast-ovary syndrome or
hereditary nonpolyposis colon cancer, each accounting for
approximately one-third of high-risk familial cases.
Additional rare single gene disorders which feature ovarian
cancers include Gorlin syndrome (ovarian fibrosarcomas),
Peutz-Jeghers syndrome and Ollier’s disease (sex chord
tumors).
|
The relative risk of ovarian and breast cancer for
first-degree relatives of cases with ovarian cancer is
increased 2.8 and 1.6 fold, respectively.
Among first-degree relatives of breast cancer cases the
risk for ovarian cancer is increased 1.7-fold.
The risk for ovarian cancer for Jewish women with an
affected first-degree relative is increased 8.8-fold and the
risk for a non-Jewish woman with an affected first-degree
relative is increased 3-fold.
|
Greggi et al. 1990; Houlston et al. 1992; Grover et al.
1973; Scheuner et al., 1997; Schildkraut et al., 1989; Amos
and Struewing, 1993; Steinberg et al., 1998.
|
Endometrial Cancer
|
An estimated 13% of endometrial cancer cases have a family
history of endometrial cancer and/or other cancers. About 50%
of these familial cases have histories consistent with
hereditary non-polyposis colorectal cancer syndrome (HNPCC),
and about 12.5% of these familial cases have histories
consistent with a high-risk, site-specific hereditary
syndrome.
|
Two or more close relatives with endometrial cancer,
especially at an early age (prior to menopause). Many high-risk families may have HNPCC featuring early
onset colorectal cancer, and cancer of the stomach, bile duct,
uroepithelium, and ovaries.
|
A family history of endometrial cancer in a first-degree
relative is associated with about a 3-fold increase in
endometrial cancer risk.
There is a 1.9-fold increase in risk for colorectal
cancer among cases.
|
Sandles, et al. 1992; Boltenberg, et al. 1990; Gruber and
Thompson, 1996;
|
Prostate Cancer
|
Approximately 15% of prostate cancer is familial and about
33% of these familial cases are consistent with a high
familial risk. Among
691 families ascertained through a single prostate cancer
case, 14% had two affected first-degree relatives and 2% had 3
or more affected first-degree relatives.
|
Prostate cancer in two or more close relatives especially
with early age of onset.
Prostate cancer is within the spectrum of cancers
associated with BRCA mutations, which feature increased risk
for cancers of the breast, ovaries, colon, pancreas, stomach,
bile duct, and melanoma.
|
Men with an affected father or brother have a 2-fold
increase in prostate cancer risk.
Men with two or three affected first-degree relatives
had a 5 and 11-fold increase in risk, respectively.
|
Spitz et al., 1991; Steinberg et al., 1990; Carter et a.,
1992
|
Colon Cancer
|
Approximately 20 to 25% of colorectal cancer cases report a
family history of colorectal cancer.
About 0.5% of familial cases are high-risk, polyposis
syndromes. About 25 to 50% of familial cases are consistent
with a high-risk, hereditary nonpolyposis colorectal cancer (HNPCC)
syndrome.
|
Early onset colon cancer and increased risk for
synchronous and metachronous disease, family history of colon
cancer and other syndrome associated malignancies. These syndromes may be classified
according to the polyposis type: adenomatous, hamartomatous,
and juvenile. The
cancer spectrum in HNPCC includes colorectal, endometrial,
gastric, biliary tract, ovarian, and uroepithelial carcinoma.
Some families may feature breast cancer; others may
have sebaceous adenomas and keratoacanthoma (Muir-Torre
syndrome). Turcot syndrome features colorectal cancers
associated with adenomatous polyposis or non-polyposis and
central nervous system tumors.
|
There is a 3.2 to 3.5-fold increase in incidence and
mortality from colorectal cancer in first-degree relatives of
colon cancer cases.
|
Ponz de Leon et al. 1992; Eddy et al. 1987; Mecklin 1987;
Stephenson et al. 1991; Woolf 1958; Macklin 1960, Lovett, 1976
|
Do
Americans Know Their Family History of Asthma and Heart Disease?
Joelyn
Tonkin, MSPH, Paula Yoon,
ScD, MPH, Muin Khoury, MD, PhD,
Office of Genomics and Disease Prevention, CDC
It
has been proposed that family history could be used as a public health
tool for risk stratification and screening.
It is unclear, however, what proportion of the population is
likely to know their family history.
This study uses data from a national health survey to determine
the proportion of people who can provide a family history of
first-degree relatives for asthma and heart disease and examines the
characteristics of people who do not know their family history for
first-degree relatives. Healthstyles
2001, a population-based survey, included four family history questions.
Participants were asked if their biological mother, father, or
siblings had ever had asthma or heart disease.
Results showed that 13.7% and 17.0% of respondents to this survey
could not provide a complete family history of first-degree relatives
for asthma and heart disease respectively.
Logistic regression found that significant predictors for
reporting an incomplete family history of asthma were age 65 and over
(OR=1.8), income <$25,000 (OR=1.9) and $25,000-$49,999 (OR=1.4),
Black (OR=2.2) and Hispanic (OR=1.5) race, governmental or no insurance
(OR=1.4), and having asthma (OR=2.1).
Significant predictors for reporting an incomplete FH of heart
disease were age 65 and older (OR=1.7), income <$25,000 (OR=1.8) and
$25,000-$49,999 (OR=1.3), Black (OR=1.6) and Other (OR=2.2) race,
governmental or no insurance (OR=1.3), having asthma (OR=1.9), and not
understanding health issues (OR=1.3).
Some people who reported an incomplete family history of
first-degree relatives, still provided enough information that could be
used to stratify them into risk categories.
Of the 511 people who had incomplete family histories for asthma,
17.0% could be classified as having at least a moderate family history
and 6.5% could be classified as having a strong family history.
Of the 630 people who had incomplete family histories heart
disease, 30.4% could be classified as having at least a moderate family
history and 15.3% could be classified as having a strong family history.
In conclusion, a majority of the population can report a complete
family history at least for first-degree relatives.
Of those that cannot, even partial family history information may
be useful for identifying people who are at higher risk than the
population at large.
Family
History of Cancer and Cancer Screening in the General Population
Ingrid Hall, PhD, MPH, National
Center for Chronic Disease Prevention and Health Promotion, CDC
Steven Coughlin, PhD, Louise Wideroff, PhD, MSPH, Andrew Freedman, PhD
We investigated the effect of family history of cancer on likelihood of
receiving cancer-screening tests. We
analyzed nationally representative data from the year 2000 National
Health Interview Survey Cancer Control Topical Module (CCTM) to evaluate
whether individuals with a self-reported family history of either
breast, cervical colorectal, or prostate cancers were more likely than
those without a family history to undergo mammography, clinical breast
exam, Pap smear, fecal occult blood test, colonoscopy/flexible
sigmoidoscopy, or prostate specific antigen testing.
Preliminary
results show a statistically significant difference in receipt of all
cancer screening tests among those with a positive family history.
In addition, among those screened, individuals with a positive
family history were more likely to adhere to recommended screening
guidelines and to receive screening tests within recommended intervals.
Population
Versus High-Risk Prevention Strategies:
Do We Need to Choose?
Steven C. Hunt, PhD, University of Utah
Family history is
highly and independently predictive of future disease for most common
diseases. While any
individual risk factor may be predictive of disease, family history
represents the combined influence of all risk factors, genetic,
environmental, and behavioral, on disease expression in multiple family
members. Families with a
positive family history, regardless of what the risk factors are, have
one thing in common: they
express the disease. Assessing
family history and determining shared (or unshared) risk factors leading
to disease in each family is family-based medicine at its best.
The majority of
cardiovascular disease occurs in a small proportion of families with a
positive family history of cardiovascular disease.
This means that effective identification of this relatively small
subset of the population and targeted application of family-based
intervention methods to these families could have a tremendous impact on
reducing morbidity and mortality.
Studies
of disease risk and risk factor distributions have suggested that the
majority of events occur, not at the extremes of the distribution, but
in the upper normal/borderline high range of the risk factor.
For this reason, it has been questioned whether a high-risk
approach using individual risk factors is cost effective compared to a
population approach to risk factor reduction.
However, the portion of the risk factor distribution from which
most of the events arise is the main subgroup of people targeted by
assessing positive family histories.
Therefore, picking extremes based upon family history targets the
portion of the population that has the most events and is not the same
as targeting extremes of a single risk factor distribution.
Family history
assessment identifies family members who are already affected who could
benefit from secondary prevention and unaffected family members at risk
who could benefit from primary prevention.
In addition, even those families with an average risk would
benefit by being reminded of current population recommendations for risk
factor screening and control that should accompany a family history
report.
Of course, collecting family
history is not an easy task and can be costly.
We have developed methods over the years that have significantly
reduced the cost of assessing family history in large populations and
have recently begun work on making Internet versions of these methods
available. A validated and
user-friendly Internet family history collection tool would be nearly
cost-free and could be used by schools, health departments, in clinical
settings, and by the general public.
To accomplish this, some type of consensus document should be
created concerning standard data that should be collected on each family
and a standard definition of a positive family history should be adopted
that has the greatest validity. Similar to the National Cholesterol Education Program
guidelines or the Joint National Committee on Prevention, Detection,
Evaluation, and Treatment of High Blood Pressure guidelines, which have
evolved over time but provide the best current advice, guidelines on
family history could help with the training of the health community,
standardization of recommendations, and effective intervention
development. These
developments would lead to effective utilization of family history in
the population to provide important health information to all families
and to target high-risk families for special attention. Those individuals at highest risk usually cannot reduce their
risk to appropriate levels without qualified help.
Association Between Family History of Colorectal Cancer and Preventive
Health Behaviors in Women - United States, 1997
Jill
M. Morris, PhD, Amanda Brown, PhD, Marta Gwinn, MD, MPH, Muin Khoury,
MD, PhD, Office of Genomics and Disease Prevention, CDC
Background:
Colorectal cancer (CRC) is the third leading cause of cancer-related
mortality in the U.S., claiming over 56,000 lives annually. Although family history (FHx) is the second strongest risk
factor for CRC, it is not known whether having a FHx of CRC motivates
people to change lifestyle and screening behaviors to reduce their risk.
Methods:
We conducted a cross-sectional analysis of data from 64,473 cancer-free
women interviewed in 1997 for the American Cancer Society’s Cancer
Prevention Study II. FHx of
CRC was categorized as strong (2 or more first-degree relatives with CRC,
or one aged <50) or moderate (only 1 first-degree relative with CRC,
not aged <50). We used multinomial logistic regression to
estimate adjusted odds ratios (OR) for associations between FHx and
screening/lifestyle factors. Regression
models included age, education, type of health care coverage, and FHx of
other cancers.
Results:
The median age of participants was 67; 98% were white. Overall,
13.5% of respondents reported a FHx of CRC: 2.1% had a strong and 11.3%
had a moderate FHx. Compared
with women who had no FHx of CRC, those with a strong FHx were more
likely to have undergone recent endoscopy (OR=2.3, 95% Confidence
Interval [CI]=2.1-2.6), as were those with a moderate FHx (OR=1.8,
CI=1.7-1.9). Women in both
groups were slightly more likely to be nonsmokers, regular aspirin
users, and to have had a rectal exam.
Conclusions:
Awareness of a FHx of CRC may motivate people to seek endoscopy or
engage in other preventive behaviors.
Promoting awareness of FHx and incorporating FHx into prevention
messages may be promising tools for increasing CRC screening and other
preventive behaviors.
Using Decision Analytic Method to Assess the Utility of Family History
for Public Health and Preventive Medicine
Anupam Tyagi, PhD, National Center for Chronic Disease Prevention and
Health Promotion
In addition to genetic testing for common diseases, family
history may be a useful tool for identifying people at increased risk of
disease and developing targeted interventions for individuals at
higher-than-average risk . This presentation addresses the issue of how
to examine the utility of a family history tool for public health and
preventive medicine. We propose the use of a decision analytic framework
for the assessment of a family history tool, and outline the major
elements of a decision-analytic approach including analytic perspective,
costs, outcome measurements, and data needed to assess the value of a
family history tool. We also describe the need for effective
communication, implications of measurement error and imperfect
information, and the use of sensitivity analysis to address uncertainty
in parameter values of a decision model. Two examples are used to
illustrate the framework. Sensitivity
analysis is used to identify information gaps and research challenges
that need to be addressed to make family history information a useful
public health tool.
Can
Knowledge of Family History Affect Behavior Change: Using Family History
of Breast Cancer as an Example
Janet Audrain, PhD, University of Pennsylvania
Public health approaches to disease prevention have had a limited
impact on promoting health behavior change.
More intense interventions aimed at the general population may
not be feasible and would likely be cost prohibitive.
Approaches that are targeted to those with an elevated risk for
developing disease may be more effective.
Family history of disease could be used as a public health tool
for risk stratification leading to improved disease prevention.
Interventions directed toward those with a family history rather than
the general population may result in cost-effective approaches aimed at
subpopulations most in need. That is, if family history can aid in risk stratification,
improve early detection and disease prevention, and influence
health-promoting behaviors (e.g., routine screening, healthy diet,
physical activity, weight maintenance), then family history could be
used to target individuals at elevated risk who could benefit the most
from interventions.
This presentation explores using family history of breast cancer as a
public health tool for risk stratification and improved disease
prevention. Specifically, the presentation will explore whether
knowledge of family history can affect behavior change using family
history of breast cancer as an example.
Breast cancer is the most common neoplasm among women in the
United States and second only to lung cancer in deaths attributable to
cancer. It is
estimated that in year 2002, over 200,000 women will be diagnosed with
breast cancer and almost 40,000 will die of this disease.
Having a family history of breast cancer in a first-degree
relative is one of the most important risk factors for this disease.
Women who have an affected first-degree relative have a 2- to
10-fold increased risk of developing breast cancer. This group may
comprise an important target for family history risk education. Focusing
efforts on women with a family history of breast cancer may improve
early detection and breast cancer prevention, and influence
health-promoting behaviors (e.g., cancer screening, physical activity,
weight maintenance).
Through a review of the available research on women at moderate
risk for developing breast cancer due to family history, the
presentation will address important questions in considering family
history as a public health tool and whether knowledge of family history
impacts behavior change. For
example, are women with a family history of breast cancer aware of their
elevated risk compared to women without a family history?
What are the characteristics of the women who lack this
knowledge? Would women at increased risk due to family history be more
accepting of recommendations about lifestyle changes and participation
in heightened early detection and prevention strategies?
Who is more likely to participate in breast cancer risk education
programs? Does breast cancer risk counseling improve knowledge and
comprehension of risk and does this translate into or motivate behavior
change? Who is most likely to benefit? Are there behavioral and
psychological benefits to receiving this knowledge?
Are their behavioral and psychological characteristics that
either promote or deter women who are aware of their elevated risk to
engage in breast health promoting behaviors?
Is knowledge of increased risk due to family history sufficient
to change behavior or do skills training need to be part of the
intervention. It is
concluded that targeting interventions to individuals who have a family
history of disease may be an effective strategy for improving
health-promoting behaviors, although interventions that only focus on
increasing knowledge of risk associated with family history may not be
sufficient for long-term behavior change.
Interventions may need to include behavior change skills training
(e.g., goal setting, self-monitoring) and an assessment and management
of barriers to behavior change.
|