Concept Of Family Health Important Essay.

Family History

The Family Health Insurance Assistance Program

The Family Health Insurance Assistance Program (FHIAP) was established in 1997 after Oregon’s employer mandate did not receive the necessary federal waivers. FHIAP provided health insurance premium assistance to Oregonians who were not eligible for Medicaid and had incomes below 170% of the federal poverty level. FHIAP offered monthly premium subsidies to adults on a sliding scale, ranging from 50% to 95% of the cost of insurance. All children under the age of 19 were subsidized at 100% regardless of family income. The adult members’ monthly subsidies decreased as their income increased.Concept Of Family Health Important Essay.

FHIAP offered members numerous health insurance plan choices offered by a variety of carriers throughout the state. The plans offered comprehensive medical benefits including prescription drug coverage, reasonable out-of-pocket costs, and a wide array of provider choice dependent on the carrier chosen. FHIAP contracted with five large domestic individual private market carriers in Oregon to provide plans, many of which were available statewide.Concept Of Family Health Important Essay.

From its inception, FHIAP enrollment was limited by the amount of state and federal funds available. FHIAP provided subsidies to approximately 15,000 individuals annually and was generally closed to new enrollees and at times there were 40,000 to 50,000 people on a waiting list.

International Family Health (IFH)

IFH is an international non-governmental organization in the United Kingdom dedicated to improving the sexual and reproductive health and rights of disadvantaged people in resource-poor settings. In a project funded by the European Community, the UK Department for International Development (DFID), and the International Partnership for Microbicides (IPM), IFH is collaborating with the Global Campaign for Microbicides, the Alliance, and other partners in efforts to raise awareness of microbicides among European donors, industry, regulatory bodies, and the scientific community; among developing-country policy-makers; and among HIV/AIDS, international development, women’s health, and other activist organizations in Africa, Asia, and Europe.Concept Of Family Health Important Essay.

Why Family Health History Is Central to HRAs

Family health history is an unassuming and often overlooked, but essential data element in HRAs. For many conditions, family health history is the strongest predictor of disease risk and for some, such as hereditary cancer syndromes, it is the only predictor (and thus the only component of the HRA) (see Table 13.1). An example of the impact of family health history on disease risk is Type II Diabetes, where a first-degree relative (parent or child) with the disease increases an individual’s risk from an average of 3.2% to 14.3% [6].Concept Of Family Health Important Essay. In some cases, excluding a family health history can lead to missing those at highest risk for developing a condition. For example, many risk assessments for chronic obstructive pulmonary disease ask about environmental exposures (such as smoking and asbestos), but do not ask about family history; however, those with alpha-1-antitrypsin deficiency, a hereditary condition that runs in families, are at the highest risk of developing chronic obstructive pulmonary disease even without an environmental exposure [7]. Renal cell carcinoma, a tumor of the kidney, is another example. Almost all risk assessments include smoking, alcohol, and exercise, and some include family members with renal cell carcinoma, but most do not ask about a family history of other cancers even though renal cell carcinoma is part of the constellation of cancers that can occur in two hereditary cancer syndromes, Lynch and Von Hippel–Lindau [8]. While those with hereditary cancer syndromes or alpha-1-antitrypsin deficiency are only a small proportion of those developing these two conditions, they are the ones at the highest risk of developing disease.Concept Of Family Health Important Essay.

In addition to being highly predictive, family health history also serves as the basis for a number of evidence-based guidelines that not only indicate the level of disease risk associated with a given combination of affected relatives, but also actions to take to manage risk. For example, the National Comprehensive Cancer Network’s guidelines for breast and ovarian cancer recommend BRCA testing if an individuals’ first-degree relative (parents or child) developed breast cancer at age 45 or younger [9]. Another example is abdominal aortic aneurysm screening. If an individual has a relative with the condition, then screening is recommended when they are aged 50 or older [10,11].Concept Of Family Health Important Essay.

Thus family health history is the only data element in HRAs that is both highly predictive and actionable in combination with other data elements and by itself. Unfortunately family health history is often hard to obtain. Individuals often do not know much about their relatives’ health and what they do know is often piecemeal or may be inaccurate [12]. This leads to the problem that one of the most informative data elements in HRAs is also one of the more difficult to collect.Concept Of Family Health Important Essay.

Why Family Health History is Central to HRAs

Family health history is an unassuming and often overlooked, but essential data element in HRAs. For many conditions, family health history is the strongest predictor of disease risk and for some, such as hereditary cardiovascular syndromes, it is the only predictor (and thus the only component of the HRA) (see Table 1.1). An example of the impact of family health history on disease risk is type II diabetes, where a first degree relative (parent or child) with the disease increases an individual’s risk from an average of 3.2% to 14.3% [6]. In some cases, excluding a family health history can lead to missing those at highest risk for developing a condition.Concept Of Family Health Important Essay. For example, many risk assessments for chronic obstructive pulmonary disease ask about environmental exposures (such as smoking and asbestos) but do not ask about family history; however, those with alpha-1-antitrypsin deficiency, a hereditary condition that runs in families, are at the highest risk of developing chronic obstructive pulmonary disease even without an environmental exposure [7]. Renal cell carcinoma, a tumor of the kidney, is another example. Almost all risk assessments include smoking, alcohol, and exercise, and some include family members with renal cell carcinoma, but most do not ask about a family history of other cancers even though renal cell carcinoma is part of the constellation of cancers that can occur in two hereditary cancer syndromes, Lynch and Von Hippel–Lindau [8]. While those with hereditary cancer syndromes or alpha-1-antitrypsin deficiency are only a small proportion of those developing these two conditions, they are the ones at the highest risk of developing disease.Concept Of Family Health Important Essay.

As mentioned earlier, the Framingham study and the resultant Framingham risk scores inaugurated the risk assessment field and pushed it steadily forward for the first two decades. However, currently, the three widely used cardiovascular risk scores: Framingham (which has multiple versions and multiple outcomes including atrial fibrillation, atherosclerotic heart disease, and congestive heart failure)  and the pooled equation for atherosclerotic cardiovascular disease risk recommended in the 2013 ACC/AHA Guidelines [9] (http://tools.acc.org/ascvd-risk-estimator/), do not include family health history of cardiovascular disease though an earlier version of Framingham did. To adjust for this missing information, the Canadian Cholesterol guidelines multiply the Framingham risk score by 2 for an individual who has a first degree relative with a cardiovascular event before age 60 [10]. Similarly, European guidelines recommend multiplying the risk score results by 1.7 in women and 2.0 in men [11].

In addition to being highly predictive, family health history also serves as the basis for a number of evidence-based guidelines that not only indicate the level of disease risk associated with a given combination of affected relatives but also actions to take to manage risk. For example, the National Comprehensive Cancer Network’s guidelines for breast and ovarian cancer recommend BRCA testing if an individuals’ first degree relative (parents or child) developed breast cancer at age 45 or younger [12]. Another example is abdominal aortic aneurysm screening. If an individual has a relative with the condition, then screening is recommended when they are aged 50 or older [13,14].Concept Of Family Health Important Essay.

Despite the fact that the cardiovascular field was early to begin to explore the benefits of risk assessment, there is a complete absence of literature and guidelines addressing the role of family history, even for the many hereditary cardiovascular syndromes, except for Familial Hypercholesterolemia (FH). For FH, there are now four different screening tools (Simon Broom, Dutch Lipid Clinic Network, Med Ped, and the newly published FAMCAT)—all include family history. One important aspect of these hereditary conditions, which include many cardiomyopathies and arrhythmias, as well as FH, is that (for most) there are steps that can be taken to manage risk. For example, there is now a drug class (PCSK-9 inhibitors) approved specifically for use in individuals with FH, echocardiogram screening for cardiomyopathies, and EKG screening for arrhythmias. Another highly important point to consider is the risk to relatives when a family member is found to have a hereditary condition. In these cases, it’s important to inform and screen those individuals at-risk. Processes to facilitate this screening, called cascade screening, are being explored and have been most closely studied in Europe around FH.Concept Of Family Health Important Essay.

Thus, family health history is the only data element in HRAs that is both highly predictive and actionable in combination with other data elements and by itself. Unfortunately, family health history is often hard to obtain. Individuals often do not know much about their relatives’ health and what they do know is often piecemeal or may be inaccurate [15]. This leads to the problem that one of the most informative data elements in HRAs is also one of the more difficult to collect.Concept Of Family Health Important Essay.

14.4.1 Family health history

A complete family health history has long been identified as one of the most important tools for assessing disease risks (Rich et al., 2004). The collection and interpretation of family health history provides a cost-effective glimpse of the potential genetic risks possessed by a patient. Unlike genomic information, the family health history is able to capture how the genome interacts with social and environmental factors to determine the phenotypes of family members. As germ line genetic mutations are passed from one generation to the next, so too are the phenotypic characteristics of such mutations. Indeed, a positive family history can be a stronger predictor than available genetic tests for several multifactorial diseases, such as diabetes, heart disease, and cancer (Yoon et al., 2002).Concept Of Family Health Important Essay.

While some might believe that the utility of the family health history is becoming less important with the advent of high-throughput genetic testing and the imminent clinical adoption of whole genome sequencing, family health history will continue to remain relevant for a long time and will likely become more important in the future (Guttmacher et al., 2004). The complexities of genetics – in particular, variable penetrance and variants of unknown significance – will require one’s genome to be analyzed in the context of the family history to increase the accuracy of assessment (Scheuner et al., 1997). Health IT and CDS solutions can be leveraged to support the collection and interpretation of family health history in support of personalized medicine (Crane and Raymond, 2003).Concept Of Family Health Important Essay.

Ideally, a clinician should collect a complete, three-generational family history from every patient to determine who is at increased risk for disease and who may be appropriate for genetic testing, referral to an appropriate specialist or genetic counselor, and/or personalized preventative measures. Unfortunately, in practice, family health history is poorly collected. Physicians typically collect family history from half of new patients and less than a quarter of returning patients (Acheson et al., 2000). The primary barriers identified include lack of time, lack of reimbursement, and lack of expertise (Rich et al., 2004; Acton et al., 2000; Bernhardt et al., 1987). Most family history discussions are limited to a few minutes – not enough time to collect a thorough family health history from the patient (Acheson et al., 2000). Moreover, even when clinicians attempt to collect a family health history, patients are unprepared and fail to report important information accurately (Love et al., 1985).Concept Of Family Health Important Essay.

In addition, family health history has been traditionally collected on paper, rendering it unusable for automated CDS. Recently, pedigree drawing software has become available; however, these software packages are seldom used at the primary care level due to the large amount of data entry required by the clinician or staff and the limited time available. A proposed solution to obtain widespread electronic collection of a complete family history may be to electronically gather the information directly from the patient (Guttmacher et al., 2004; Rich et al., 2004).Concept Of Family Health Important Essay. A number of patient-centered family history collection tools such as the Surgeon General’s My Family Health Portrait, (Online version of “My Family Health Portrait” available in English and Spanish, 2006) Hughes Risk Apps, (Ozanne et al., 2009) Health Heritage (Cohn et al., 2010), and ItRunsInMyFamily.com have been developed to allow data entry by the patient, at home or in the clinician’s waiting room. Figure 14.3 provides an example of one such system. The goals of these solutions are to provide a complete family health history in a computable format, decrease the required staff workload, and support clinicians’ decision-making abilities through CDS.Concept Of Family Health Important Essay.

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Figure 14.3. Screenshot of the Surgeon General’s My Family Health Portrait.

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14.4.1.1 Assessing risk based on family history

Family health history is most often used as a preliminary risk assessment tool. As with genetic information in general, the interpretation of a family health history is not a trivial task. While simple single-gene Mendelian disorders follow known inheritance patterns, such as autosomal dominant, autosomal recessive, and X-linked, many adult-onset conditions do not follow strict inheritance patterns, including diabetes, heart disease, and cancer. Each disease will have its own unique risk profile based on the constellation of affected family members (Taylor et al., 2010).Concept Of Family Health Important Essay. Typically, the greater the number, the more closely related, and the younger the age of onset of affected relatives in the family history, the greater the risk of disease to the proband Scheuner et al., 1997. However, the magnitude of risk varies greatly among diseases. Furthermore, certain genetic mutations, particularly in cancer, are known to produce variable phenotypes among family members. For example, a Jewish individual with breast cancer at age 46 who also has melanoma and pancreatic cancer in the family is at high risk of having a BRCA2 mutation and thus ovarian cancer as well. Clinicians must be aware of such subtleties in genetic syndromes, as they may otherwise miss the clues in the family history indicative of a particular genetic contribution.Concept Of Family Health Important Essay.

There is a significant need for CDS to support the complexities of interpreting family health history. CDS can be used to assess family history to help determine who needs genetic counseling or testing, to help determine the significance of different mutations, and to help determine the best management strategy. When it comes to the interpretation of the family history, there are a number of guidelines and models available for many genetic conditions. An area where models and guidelines are quite advanced is in mutations of the BRCA1 and BRCA2 genes. Several models have been developed to estimate the risk of having a BRCA mutation, including but not limited to BRCAPRO, the Myriad model, the Tyrer-Cuzick model, and BODICEA (Berry et al., 1997; Frank et al., 1998; Tyrer et al., 2004; Antoniou et al., 2004). These models require the use of computer software, since the algorithms utilized are complex. See Figure 14.4.Concept Of Family Health Important Essay.

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Figure 14.4. Risk of breast cancer over time using various risk models as displayed in Hughes Risk Apps.

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In addition, a number of organizations have developed guidelines to help determine which patients are eligible for testing, including the National Comprehensive Cancer Network (NCCN), the US Preventive Services Task Force (USPSTF), and the American College of Medical Genetics (ACMG) (National Comprehensive Cancer Network, 2013; U.S. Preventive Services Task Force, 2012; American College of Medical Genetics, 1999). Although the guidelines are meant to be used from memory or by using paper reminders without a computer, in reality they are so detailed and complex that they are seldom remembered or acted upon in the midst of a busy clinic. Computerization of the guidelines through CDS is therefore required. To this end, it is suggested that organizations publish guidelines not only as prose, but also in a machine-readable format ready for use in CDS (Dufour et al., 2006). Ideally, these machine-readable guidelines should be available via a central web-accessible service, as will be described in further detail later in the chapter.Concept Of Family Health Important Essay.

Ideally, family history and other risk factors could be submitted to various risk modeling and guideline services via a single software interface, with patient-specific assessments and recommendations returned in a common format. By taking a structured family history data and running it through established risk models and guidelines, the CDS software can help primary care clinicians identify which patients require testing or consultation by the specialist. Once the patient gets to the specialist, the genetics professional or specialist has more time to collect a more thorough and complete family history with additional details, thereby increasing the accuracy of the models and providing the patient with the best chance of having the right tests ordered and correct diagnosis made.Concept Of Family Health Important Essay.

Emery and colleagues undertook some of the earliest and most comprehensive research on CDS tools for family history collection and risk assessment in the United Kingdom in the late 1990s through the early 2000s (Emery 1999; Emery et al., 2000; Glasspool et al., 2001; Coulson et al., 2001; Emery 2005; Emery et al., 2007). The earlier version of the system they developed is known as RAGs, and the later version is known as GRAIDS. Their system was shown in an RCT to significantly increase the number of appropriate referrals for genetic counseling according to evidence-based practice guidelines (Emery 2005; Emery et al., 2007). More recently, two software packages have been developed to help analyze the risk of being a BRCA mutation carrier: CancerGene and HughesRiskApps (HRA) (Ozanne et al., 2009; UTSW Medical Center, 2004). Both run the major risk models, and recent development in HRA has begun to explore translating several guidelines (NCCN, etc.) into machine-readable format and developing the algorithms needed to interpret the family history in the context of the guidelines.Concept Of Family Health Important Essay.

As an example of how HRA makes use of clinical guidelines, the prenatal module of HRA looks at the ethnicity and family history of a pregnant woman to help determine what prenatal genetic tests might be appropriate. Prose guidelines were translated into machine-readable format and the patient’s family history and ethnicity (also entered by the patient) were then compared to these guidelines in order to suggest management and testing. For example, Ashkenazi Jews are routinely identified for possible Tay-Sachs testing, while women with a family history of mental retardation in male relatives are flagged for fragile X testing.Concept Of Family Health Important Essay.