VIDEO: ASHG, Genetic Alliance & WJLA-TV ABC 7
Family Health History Campaign created this public service
announcement video: ''Know and Share Your Family Health History.''
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BETHESDA, MD – October 22, 2024 – Thousands of the
world's top scientists and clinicians in the human genetics field
will convene to present their latest research findings at the
American Society of Human Genetics 60th Annual Meeting, which will
be held November 2-6, 2010, in Washington, D.C.
A number of scientific presentations at this year's meeting will
feature research on the application and use of family health
history information in clinical settings to assess an individual's
risk for developing common chronic diseases. Family health history
assessment is an inexpensive, simple, and useful tool that has been
shown to be effective and accurate when implemented in clinical
care settings to assess personal disease risks. Integrating the use
of family health history information in clinical practice can help
practitioners determine which patients are at high risk of
developing a specific health condition and would benefit from
taking precautionary measures to prevent disease (such as early and
frequent screening, genetic testing, health behavior and lifestyle
changes, etc.).
To support the integration and application of family history
information in clinical practice, several federal agencies and
professional organizations have developed comprehensive (and free)
online tools that make it easier for patients to collect, record
and organize their family health history information and share it
with their doctors. Some of these Web-based tools were also
designed to help health care providers to correctly interpret and
understand their patients' family health history information,
incorporate the data into electronic health records (EHRs), and
effectively apply this knowledge in clinical practice to help
determine which patients are at high risk for hereditary diseases.
[*Note: For a comprehensive source of family health history
information, online tools, and resources for consumers and health
care practitioners, please see our Talk Health History Campaign Web
site at: www.talkhealthhistory.org.]
Since National Family Health History Month is celebrated in
November, ASHG will be spreading awareness about this important
public health topic and helping people understand its application
in clinical practice as a cost-effective tool for assessing disease
risk by hosting a press briefing to highlight some of the latest
research findings of interest on this topic that will be presented
at the ASHG 2010 Annual Meeting. The four abstracts featured in
this session will present new research results that advance our
understanding of how both patients and health care practitioners
interpret and apply family health history information help assess
personal disease risk. Two of the abstracts featured in this
session will also provide new findings on the public's use of
Web-based family health history tools – including the U.S.
Surgeon General's "My Family Health Portrait" online tool and the
CDC's Family Healthware™ software program – that are
designed to help patients collect and record their family health
history, and organize the information so that it can easily be
shared with doctors and added into their EHRs.
ASHG invites members of the media to attend this press briefing
titled, "New Research Validates Clinical Use of Family Health
History as the 'Gold Standard' for Assessing Personal Disease
Risk," which will be held on Friday, November 5, 2010, from
10:30-11:30 a.m. (EDT) in the ASHG Press Briefing Room, located on
the first level of the Walter E. Washington Convention Center (Room
#101). Members of the press who cannot attend this event in person
can register to view the online webcast* of this session, which
will be posted on the ASHG Web site about two to three hours after
the event has ended (*see section in red below for more information
about viewing the online webcast).
The featured speakers and research abstracts presented in this
press briefing will include the following:
- Charis Eng, MD, PhD – "Comparison of Family Health
History to Personal Genomic Screening: Which Method is More
Effective for Risk Assessment of Breast, Colon, and Prostate
Cancer?"
- Nedal Arar, PhD – "Veterans' Response to Their Use of the
U.S. Surgeon General's Family Health History Online Tool"
- Wendy Rubinstein, MD, PhD – "Components of Family History
Associated with Women's Disease Perceptions for Cancer: A Report
from the Family HealthwareTM Impact Trial (FHITr)"
- Maren Scheuner, MD, MPH – "Family Health History
Education to Improve Genetic Risk Assessment for Cancer"
Brief summaries of the major research findings reported in these
four abstracts are included below:
Comparison of Family Health History to Personal Genomic
Screening: Which Method is More Effective for Risk Assessment of
Breast, Colon, and Prostate Cancer?
Family health history information is a useful and accurate tool
for assessing an individual's risk of developing various diseases.
Family health history charts – known as pedigrees – are
also an important tool that is often used in genetic evaluation.
While specific personal genetic screening tests may be useful in
some situations, research on family history data shows that family
health history information may be a more useful initial disease
risk assessment tool.
A group of researchers led by Charis Eng, MD, PhD, Chair and
Founding Director of the Genomic Medicine Institute (GMI) of the
Cleveland Clinic, and Founding Director and Attending Clinical
Cancer Geneticist of GMI's Center for Personalized Genetic
Healthcare, investigated the concordance and relevance between
family health history-based risk assessment (FHRA) and SNP-based
risk assessment through a DTC personal genomic screening (PGS)
test. The DTC genetic tests for this study were conducted by
Navigenics to assess each participant's personal risk of developing
three common types of cancer. Dr. Eng and her colleagues then
compared FHRA with Navigenics PGS for breast cancer (22 females),
prostate cancer (22 males), and colorectal cancer (44
individuals).
The researchers found that although both FHRA and PGS placed an
average of 40% in the same risk categories, there was little
concordance between the two for breast, prostate, or colon cancer
risks. For instance, the use of FRHA methods classified eight
individuals as being at high risk for breast cancer, but only one
of the eight was classified as high-risk when assessed via PGS.
Overall, FHRA assigned 22 individuals to the hereditary risk
category (i.e., due to a high risk mutation in a
cancer-predisposing gene), but PGS identified only one of these
individuals as high-risk. The researchers also assessed nine
individuals with hereditary risk for colorectal cancer, five of
whom had proven mutations defining inherited colorectal cancer
syndromes. None of the nine were classified as high-risk when
assessed through PGS risk analysis.
"Our research findings indicate that family health history
assessment is currently a better predictor of cancer risk when
compared with personal genomic testing methods," said Dr. Eng.
"However, the personal genomic screening tests could potentially
become more effective and accurate if combined with family health
history information and used as a complementary tool for cancer
risk assessment."
"Evaluation of family health history still remains to be the
gold standard in personal disease risk assessment," said Eng.
"Until further research is conducted to prove that personal genomic
screening can accurately predict a person's risk, it is imperative
that health care practitioners rely on family history as the
primary tool that they use to clinically evaluate each patient's
personal risk of developing cancer."
Furthermore, Eng points out that, "A personal family health
history report can be completed at little to no cost, and this type
of information is typically readily accessible and easily gathered
by the patient." She concluded by stating her belief that, "In
effect, family health history could potentially be considered as a
'secret weapon' in the integration of personalized medicine and
genetic knowledge into clinical practice."
Veterans' Response to Their Use of the U.S. Surgeon General's
Family Health History Online Tool
Despite growing evidence regarding the importance and efficacy
of using detailed family health history as a key tool in common
disease risk assessment, this type of approach for screening and
identifying at-risk individuals has not been broadly applied in
clinical practice yet. To address this problem, a group of
researchers led by Nedal H. Arar, PhD, Associate Professor of
Medicine at the University of Texas Health Science Center at San
Antonio and a research scientist at the South Texas Veterans Health
Care System, built on their collective experience in genetic family
studies and genomic health service research to study processes and
ethical issues associated with use of the U.S. Surgeon General's
"My Family Health Portrait" online family health history tool by
veterans. In the current study, Dr. Arar and her colleagues
assessed veterans' satisfaction in using the U.S. Surgeon General's
online family health history (SG-FHH) tool, and their intentions
regarding the utilization and application of their family health
history (FHH) information in clinical settings.
A total of 35 veterans who were patients at the primary care
outpatient clinic in San Antonio, Texas, were asked to enter their
FHH information into the online SG-FHH tool, and complete the
study's surveys. The study participants were given a printed copy
of their family history pedigree that was based on the data that
they entered into the online SG-FHH tool. They were then asked to
participate in a brief, semi-structured interview to assess their
intentions of how they are planning on using their FHH information.
The participants were also asked to fill out a survey that assessed
drivers of satisfaction (i.e., content, functionality, look and
feel, navigation, and performance) in using the SG-FHH online
tool.
The results of this study indicate that all 35 participants
found the online tool to be very useful. About 67% of the
participants said that they have easy access to a computer or the
Internet and demonstrated their ability to complete all FHH forms.
Most of the participants (88%) viewed the functionality, look and
feel, navigation, and performance of the SG-FHH tool favorably.
However, content analysis of the semi-structured interviews
indicated that there are several barriers to veterans' use of FHH
information, including their lack of knowledge regarding the
importance of familial risks in developing chronic diseases, and
privacy and confidentiality concerns related to entering their
personal data into an online database.
Overall, this study provided a positive assessment of the
performance and functionality of an inexpensive and
widely-accessible method for collection and documentation of FHH
information that can be integrated into clinical practice to help
practitioners determine which patients are in need of more rigorous
early disease screening, genetic testing, and/or special preventive
measures and therapies. The study findings also highlight several
opportunities and challenges related to the utilization of FHH
information as a clinical and genomic tool.
"Our work makes a substantial contribution to the ongoing
efforts directed toward the integration and translation of genomic
research findings into clinical practice," said Dr. Arar. "The
results of our study suggest that promoting the use of Web-based
family health history screening tools such as the Surgeon General's
could have important implications for primary care providers and
their patients. Increasing the public's use of this type of online
tool would improve screening for common complex diseases, which
would allow health care providers to focus their resources on
addressing critically important health behaviors and preventative
measures in the populations that are at highest risk for chronic
diseases."
She also noted that, "Overall, successful implementation of
family health history information in clinical practice has
significant implications for personalized medicine. It will also
reduce health care costs by improving disease risk screening and
prevention, which will, in turn, help improve health and quality of
life for many Americans."
Components of Family History Associated with Women's Disease
Risk Perceptions for Cancer: A Report from the Family HealthwareTM
Impact Trial (FHITr)
The Centers for Disease Control and Prevention (CDC) has
developed a Web-based predictive disease risk software program
called Family Healthware™ as a tool to help evaluate an
individual's familial risk for heart disease, stroke, diabetes, and
colon, breast, and ovarian cancer.
Wendy S. Rubinstein, MD, PhD, Clinical Associate Professor of
Medicine at the University of Chicago and Director of the
NorthShore University HealthSystem Center for Medical Genetics, and
her colleagues at the University of Michigan and Case Western
Reserve University received a three year grant from the CDC to
evaluate this new Web-based family history tool and report on the
impact of the program's familial risk report and health messages on
users' health behaviors, attitudes, and their use of health care
services. The current study was designed to determine those
elements of family health history and personal characteristics most
closely related to women's risk perceptions about cancer.
Dr. Rubinstein's team examined data from 2,505 healthy women,
ages 35-65, who were enrolled through 41 primary care practices
participating in the Family Healthware™ Impact Trial (FHITr).
The women reported detailed information about their family health
history of coronary heart disease, stroke, diabetes, and breast,
colon, and ovarian cancer. In addition, the women also reported on
their perceived risk, extent of worry, perceived severity and
perceived control over getting (or preventing) these diseases.
The study participants provided information on a total of 41,841
relatives. Excluding their parents, significantly more women
reported having a family history of cancer in their maternal versus
paternal lineage. In addition, having a family history of cancer on
the paternal versus the maternal side was associated with a lower
perceived risk for breast cancer. Cancer-specific perceived risks
were present for all three cancers for the total number of
relatives, or having any first-degree relative with that type of
cancer. The research results also indicate that there were novel
"spillover" effects wherein a positive family history of breast or
colon cancer was associated with a higher perceived risk of ovarian
cancer. Furthermore, according to the study findings, age and
parenthood were associated with disease perceptions in ways that
ran counter to empiric risks.
The researchers concluded that gaining a better understanding
the elements that contribute to women's disease perceptions has
important implications for communicating health risks to this
target audience. The research findings suggest that female patients
have limited awareness and understanding of the relevance of their
paternal family medical history. Some have suggested that public
health education programs should place a stronger emphasis on
patient-centered approaches aimed at helping patients achieve
informed choices instead of generally promoting the positive value
of early disease screening, genetic testing, or preventive
surgeries and therapies. The current research findings support this
approach and identify key areas of women's disease risk perceptions
that should be considered when developing public health messages
for this target audience.
"The experience of living in a family shapes our attitudes
toward illness and health, which in turn exerts a large influence
on whether or not we adopt healthy behaviors – not to mention
the fact that our relatives tend to share a lot of genetic overlap
in terms of the disease risks that we have inherited," said
Rubinstein. "It is for these reasons that family health history is
considered to be the 'gold standard' for disease risk assessment
that will help us achieve the full benefit of personalized medicine
through the effective use and application of patients' genetic
information in clinical practice."
"The results of our analyses indicate that while health risk
perceptions are generally in agreement with medically-recognized
family history risk factors, some perceptions often run counter to
actual risk," Rubinstein noted. "For example, our research findings
suggest that many patients think cancer risk decreases with age,
when in fact it increases with age."
"Understanding women's 'mental model' of disease and how they
interpret family health history information is critical for
effective communication of disease risk through health care
providers, family history tools, and public health campaign
messages designed for this target audience," said Rubenstein.
Family Health History Education to Improve Genetic Risk
Assessment for Cancer
Implementation of a comprehensive genetics education program for
primary care clinicians at the Department of Veterans Affairs
Greater Los Angeles (VA GLA) Healthcare System has resulted in
better cancer family history documentation, improved recognition of
patients at risk for hereditary cancer, and increased referrals for
genetic consultation and testing. This education program –
which was developed by Maren Scheuner, MD, MPH, Director of the
Health Services Genomics Program and Clinical Genetic Services at
VA GLA, and a group of her colleagues – is comprised of
informational (Web site, CME-approved lecture series), clinical
(patient and provider information sheets, a family history reminder
with template in the electronic health record (or EHR)), and
behavioral components (practice-feedback reports regarding
clinicians' use of the EHR tool).
To evaluate the impact of the education program, Scheuner and
colleagues kept track of changes in the knowledge, attitudes and
behaviors of seven clinicians (five physicians, one nurse
practitioner, and one physician assistant) who practice in the
Women's Clinics at VA GLA and have agreed to participate in the
study. At baseline, the mean percent correct score for clinician
knowledge was 55% (range: 26-77%) with the lowest scores in the
areas of genetic testing and recognition of hereditary cancer
syndromes. The topics rated as most relevant to primary care
practitioners were management of hereditary cancer, knowing when to
refer a patient, and ethical issues.
The clinical tools developed for the EHR appear to have had the
greatest impact in changing clinician behavior. During the first
five months of implementation of the education program, 568 cancer
family histories were completed using the reminder and template in
the EHR. The family history data captured with the template
includes information that previously was not routinely documented
by the clinicians, but is necessary to recognize high-risk
patients, such as a family history of cancer in second-degree
relatives, identifying the maternal or paternal lineage of affected
relatives, and the age of cancer diagnosis in relatives. As a
result, the genetics consultation service at the VA GLA received 47
patient referrals for risk assessment and possible genetic testing
that, according to Scheuner, "very likely would not have been made
without this comprehensive genetics education program."
"Our early experience with this education program shows that we
have successfully changed the behaviors of our primary care
clinicians at the VA in Los Angeles," Scheuner said. "Our research
results suggest that the educational components implemented in this
program have helped improve family health history documentation and
implementation on the part of clinicians, which likely played in a
large role in contributing to the subsequential increase that we
saw in the number of patients who were referred to the VA GLA
genetics consultation service for risk assessment and/or genetic
testing."
However, she noted that evaluation of the genetics education
program is still ongoing. "We are planning to conduct interviews
with the clinicians enrolled in this study to get feedback about
the individual components of the program, and obtain a follow-up
assessment of the clinicians' knowledge and attitudes about
genetics, family history documentation, and risk assessment," said
Scheuner. "If we demonstrate continued success, this program may
serve as a model for improving genetic risk assessment of other
health conditions, and with appropriate modifications, it could
also potentially be applied in other health care settings as
well."
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