| Topic |
Description |
Grade† |
Date
in
Effect
|
|
USPSTF A & B recommendations that consider family health history
|
| Abdominal aortic aneurysm (AAA) screening: men |
The USPSTF recommends one-time screening for abdominal aortic aneurysm by ultrasonography in men aged 65-75 who have ever
smoked.
Clinical considerations pertaining to family health history:
A first-degree family history of AAA requiring surgical repair also elevates a man's risk for AAA; this may also be true for
women but the evidence is less certain.
As always, clinicians must individualize recommendations depending on a patient’s risk and likelihood of benefit. For example,
some clinicians may choose to discuss screening with male nonsmokers nearing age 65 who have a strong first-degree family
history of AAA that required surgery.
Individualization of care, however, is still required. For example, a clinician may choose to discuss screening in the unusual
circumstance in which a healthy female smoker in her early 70s has a first-degree family history for AAA that required surgery.
Discussion pertaining to family health history:
The major risk factors for AAA include male sex, a history of ever smoking (defined in surveys as 100 cigarettes in a person's
lifetime), and age 65 or older. Other lesser risk factors include family history, coronary heart disease, claudication, hypercholesterolemia,
hypertension, cerebrovascular disease, and increased height. Factors associated with decreased risk include female sex, diabetes
mellitus, and black race.
|
B |
February
2005
|
| BRCA screening, counseling |
The USPSTF recommends that women whose family history is associated with an increased risk for deleterious mutations in BRCA1 or BRCA2 genes be referred for genetic counseling and evaluation for BRCA testing.
The USPSTF recommends against routine referral for genetic counseling or routine breast cancer susceptibility gene (BRCA) testing for women whose family history is not associated with an increased risk for deleterious mutations in breast cancer
susceptibility gene 1 (BRCA1) or breast cancer susceptibility gene 2 (BRCA2).
Clinical considerations pertaining to family health history:
[These recommendations] do not apply to women with a family history of breast or ovarian cancer that includes a relative with
a known deleterious mutation in BRCA1 or BRCA2 genes; these women should be referred for genetic counseling.
Although there currently are no standardized referral criteria, women with an increased-risk family history should be considered
for genetic counseling to further evaluate their potential risks.
Certain specific family history patterns are associated with an increased risk for deleterious mutations in the BRCA1 or BRCA2 gene. Both maternal and paternal family histories are important. For non- Ashkenazi Jewish women, these patterns include
2 first-degree relatives with breast cancer, 1 of whom received the diagnosis at age 50 years or younger; a combination of
3 or more first- or second-degree relatives with breast cancer regardless of age at diagnosis; a combination of both breast
and ovarian cancer among first- and second-degree relatives; a first-degree relative with bilateral breast cancer; a combination
of 2 or more first- or second-degree relatives with ovarian cancer regardless of age at diagnosis; a first- or second-degree
relative with both breast and ovarian cancer at any age; and a history of breast cancer in a male relative.
For women of Ashkenazi Jewish heritage, an increased-risk family history includes any first-degree relative (or 2 second-degree
relatives on the same side of the family) with breast or ovarian cancer.
About 2% of adult women in the general population have an increased-risk family history as defined here. Women with none of
these family history patterns have a low probability of having a deleterious mutation in BRCA1 or BRCA2 genes.
Women with an increased-risk family history are at risk not only for deleterious BRCA1 or BRCA2 mutations but potentially for other unknown mutations as well. Women with an increased-risk family history who have negative
results on tests for BRCA1 and BRCA2 mutations may also benefit from surgical prophylaxis.
Discussion pertaining to family health history:
Breast and ovarian cancer are associated with a family history of these conditions. Approximately 5%-10% of women with breast
cancer have a mother or sister with breast cancer, and up to 20% have a first-degree or a second-degree relative with breast
cancer. Germline mutations in 2 genes, BRCA1 and BRCA2, have been associated with an increased risk for breast cancer and ovarian cancer. Specific BRCA mutations (founder mutations) are clustered among certain ethnic groups, such as Ashkenazi Jews, and among families in the
Netherlands, Iceland, and Sweden.
Several characteristics are associated with an increased likelihood of BRCA mutations. These include breast cancer diagnosed at an early age, bilateral breast cancer, history of both breast and ovarian
cancer, presence of breast cancer in 1 or more male family members, multiple cases of breast cancer in the family, both breast
and ovarian cancer in the family, 1 or more family members with 2 primary cases of cancer, and Ashkenazi Jewish background.
No direct measures of the prevalence of clinically important BRCA1 or BRCA2 mutations in the general, non-Jewish US population have been published; however, models have estimated it to be about 1 in
300-500. Prevalence estimates in a large study of individuals from referral populations with various levels of family history
ranged from 3.9% (no breast cancer diagnosed in relatives < 50 years of age and no ovarian cancer) to 16.4% (breast cancer
diagnosed in a relative < 50 years of age and ovarian cancer diagnosed at any age).
|
B
D
|
September 2005 |
| Breast cancer preventive medication |
The USPSTF recommends that clinicians discuss chemoprevention with women at high risk for breast cancer and at low risk for
adverse effects of chemoprevention. Clinicians should inform patients of the potential benefits and harms of chemoprevention.
Clinical considerations pertaining to family health history:
Clinicians should consider both the risk for breast cancer and the risk for adverse effects when identifying women who may
be candidates for chemoprevention.
Risk for breast cancer: older age; a family history of breast cancer in a mother, sister, or daughter; and a history of atypical
hyperplasia on a breast biopsy are the strongest risk factors for breast cancer.
|
B |
July
2002
|
| Cholesterol abnormalities screening: men 35 and older |
The USPSTF strongly recommends screening men aged 35 and older for lipid disorders. |
A |
June
2008
|
| Cholesterol abnormalities screening: men younger than 35 |
The USPSTF recommends screening men aged 20-35 for lipid disorders if they are at increased risk for coronary heart disease. |
B |
| Cholesterol abnormalities screening: women 45 and older |
The USPSTF strongly recommends screening women aged 45 and older for lipid disorders if they are at increased risk for coronary
heart disease.
|
A |
| Cholesterol abnormalities screening: women younger than 45 |
The USPSTF recommends screening women aged 20-45 for lipid disorders if they are at increased risk for coronary heart disease.
Clinical considerations pertaining to family health history:
Increased risk, for the purposes of this recommendation, is defined by the presence of a family history of cardiovascular
disease before age 50 in male relatives or age 60 in female relatives.
Treatment decisions should take into account a person's overall risk for heart disease rather than lipid levels alone. Overall
risk assessment should include the presence and severity of the following risk factors: age, gender, diabetes, elevated blood
pressure, family history (in younger adults), and smoking.
Discussion pertaining to family health history:
Coronary heart disease mortality is associated with several risk factors, including dyslipidemia, high blood pressure, tobacco
use, diabetes, a family history of premature coronary heart disease, older age, male sex, and diet. Other risk factors for
coronary heart disease include socioeconomic status, obesity, and physical inactivity. Consideration of lipid levels along
with other risk factors allows for an accurate estimation of coronary heart disease risk
|
B |
| Colorectal cancer screening |
The USPSTF recommends screening for colorectal cancer using fecal occult blood testing, sigmoidoscopy, or colonoscopy, in
adults, beginning at age 50 years and continuing until age 75 years. The risks and benefits of these screening methods vary.
Clinical considerations pertaining to family health history:
These recommendations apply to adults 50 years of age and older, excluding those with specific inherited syndromes (the Lynch
syndrome or familial adenomatous polyposis) and those with inflammatory bowel disease.
The recommendations apply to those with first-degree relatives who have had colorectal adenomas or cancer, although for those
with first-degree relatives who developed cancer at a younger age or those with multiple affected first-degree relatives,
an earlier start to screening may be reasonable.
|
A |
October
2008
|
| Depression screening: adolescents |
The USPSTF recommends screening of adolescents (12-18 years of age) for major depressive disorder when systems are in place
to ensure accurate diagnosis, psychotherapy (cognitive-behavioral or interpersonal), and follow-up.
Clinical considerations pertaining to family health history:
Important risk factors that can be assessed relatively accurately and reliably include parental depression, having comorbid
mental health or chronic medical conditions, and having experienced a major negative life event.
|
B |
March
2009
|
| Depression screening: adults |
The USPSTF recommends screening adults for depression when staff-assisted depression care supports are in place to assure
accurate diagnosis, effective treatment, and follow-up.
Clinical considerations pertaining to family health history:
Groups at increased risk include persons with other psychiatric disorders (including substance misuse), persons with a family
history of depression; persons with chronic medical diseases; and persons who are unemployed or of lower socioeconomic status.
|
B |
December 2009 |
| Folic acid supplementation |
The USPSTF recommends that all women planning or capable of pregnancy take a daily supplement containing 0.4- 0.8 mg (400-800
µg) of folic acid.
Rationale pertaining to family health history:
Although a personal or family history of a pregnancy affected by a neural tube defect is associated with an increased risk
for having an affected pregnancy, most cases occur in the absence of any positive history.
Clinical considerations pertaining to family health history:
The use of certain antiseizure medicines and a personal or family history of neural tube defects are well-established risk
factors.
|
A |
May
2009
|
| Hearing loss screening: newborns |
The USPSTF recommends screening for hearing loss in all newborn infants.
Clinical considerations pertaining to family health history:
Risk factors associated with a higher incidence of permanent bilateral congenital hearing loss include neonatal intensive
care unit (NICU) admission for ≥ 2 days, several congenital syndromes, family history of hereditary childhood sensorineural
hearing loss, craniofacial abnormalities, and certain congenital infections.
Discussion pertaining to family health history:
Risk factors associated with a higher incidence of permanent congenital hearing loss (PCHL) include NICU admission for >2
days; syndromes associated with hearing loss, such as Usher and Waardenburg syndromes; family history of hereditary childhood
hearing loss; craniofacial abnormalities; and congenital infections such as cytomegalovirus, toxoplasmosis, bacterial meningitis,
syphilis, herpes, and rubella. However, approximately 50% of infants with PCHL do not have any known risk factors.
|
B |
July
2008
|
| Osteoporosis screening: women |
The USPSTF recommends screening for osteoporosis in women aged 65 years or older and in younger women whose fracture risk
is equal to or greater than that of a 65-year-old white woman who has no additional risk factors.
Clinical considerations pertaining to family health history:
The USPSTF used the FRAX (Fracture Risk Assessment) tool (World Health Organization Collaborating Centre for Metabolic Bone Diseases, Sheffield, United
Kingdom), to estimate 10-year risks for fractures because this tool relies on easily obtainable clinical information, such
as age, body mass index (BMI), parental fracture history, and tobacco and alcohol use; its development was supported by a
broad international collaboration and extensively validated in 2 large US cohorts; and it is freely accessible to clinicians
and the public. The FRAX tool includes questions about previous dual-energy X-ray absorptiometry (DXA) results but does not
require this information to estimate fracture risk.
On the basis of the US FRAX tool, a 65-year-old white woman with no other risk factors has a 9.3% 10-year risk for any osteoporotic
fracture. White women between the ages of 50 and 64 years with equivalent or greater 10-year fracture risks on the basis of
specific risk factors include but are not limited to the following persons: 1) a 50-year-old current smoker with a BMI less
than 21 kg/m2, daily alcohol use, and parental fracture history; 2) a 55-year-old woman with a parental fracture history; 3) a 60-year-old
woman with a BMI less than 21 kg/m2 and daily alcohol use; and 4) a 60-year-old current smoker with daily alcohol use. The FRAX tool also predicts 10-year fracture
risks for black, Asian, and Hispanic women in the United States. In general, estimated fracture risks in nonwhite women are
lower than those for white women of the same age.
Discussion pertaining to family health history:
Because of the large and diverse sample size used to develop and validate the FRAX tool and the fact that this instrument
includes a publicly available risk calculator, the USPSTF used the FRAX tool to determine which individuals would exceed the
baseline risk threshold for developing fractures on the basis of their age or other risk factors (such as low BMI, a parental
history of hip fracture, smoking status, and daily alcohol use).
|
B |
January
2011
|
|
USPSTF D recommendations that consider family health history
|
| Chronic obstructive pulmonary disease screening using spirometry |
The USPSTF recommends against screening adults for chronic obstructive pulmonary disease (COPD) using spirometry.
Clinical considerations pertaining to family health history:
This recommendation does not apply to individuals with a family history of α1-antitrypsin deficiency.
|
D |
March
2008
|
| Colorectal cancer: aspirin or nonsteroidal anti-inflammatory drugs for primary prevention |
The USPSTF recommends against the routine use of aspirin and nonsteroidal anti-inflammatory drugs to prevent colorectal cancer
in individuals at average risk for colorectal cancer.
Clinical considerations pertaining to family health history:
This recommendation applies to asymptomatic adults at average risk for colorectal cancer, including those with a family history
of colorectal cancer, and not to individuals with familial adenomatous polyposis, hereditary nonpolyposis colon cancer syndromes
(Lynch I or II)
Discussion pertaining to family health history:
The incidence of colorectal cancer is influenced by family history. People who have 2 or more first- or second-degree relatives
(or both) with colorectal cancer represent approximately 20% of all people with colorectal cancer. About 5%-10% of all cases
of colorectal cancer develop in people with the autosomal dominant conditions of familial adenomatous polyposis or hereditary
nonpolyposis colorectal cancer, also known as the Lynch syndrome.
|
D |
March
2007
|
| Hemochromatosis screening |
The USPSTF recommends against routine genetic screening for hereditary hemochromatosis in the asymptomatic general population.
Clinical considerations pertaining to family health history:
This recommendation does not include individuals with a family history of clinically detected or screening-detected probands
for hereditary hemochromatosis.
Clinically recognized hereditary hemochromatosis is primarily associated with the HFE mutation C282Y. Screening of family members of probands identifies the highest prevalence of undetected C282Y homozygotes
(23% of all family members tested), particularly among siblings (33% homozygosity)
Individuals with a family member, especially a sibling, who is known to have hereditary hemochromatosis may be more likely
to develop symptoms. These individuals should be counseled about genotyping, with further diagnostic testing as warranted
as part of case-finding.
|
D |
August
2006
|
| Ovarian cancer screening |
The USPSTF recommends against routine screening for ovarian cancer.
Clinical considerations pertaining to family health history:
The positive predictive value of an initially positive screening test would be more favorable for women at higher risk. For
example, the lifetime probability of ovarian cancer increases from about 1.6% in a 35-year-old woman without a family history
of ovarian cancer to about 5% if she has 1 relative and 7% if she has 2 relatives with ovarian cancer. If ongoing clinical
trials show that screening has a beneficial effect on mortality rates, then women at higher risk are likely to experience
the greatest benefit.
Discussion pertaining to family health history:
Several risk factors are associated with ovarian cancer. Family history increases the risk for ovarian cancer, and having
1 first- or second-degree relative with ovarian cancer increases risk by about 3-fold. Carriers of the BRCA1 or BRCA2 gene mutations are also at increased risk.
|
D |
May
2004
|
| Prostate cancer screening |
The USPSTF recommends against prostate-specific antigen (PSA)-based screening for prostate cancer.
Clinical considerations pertaining to family health history:
Across age ranges, black men and men with a family history of prostate cancer have an increased risk of developing and dying
of prostate cancer.
Other considerations pertaining to family health history:
Additional research is needed to determine whether the balance of benefits and harms of prostate cancer screening differs
in men at higher risk of developing or dying of prostate cancer, including black men and those with a family history of the
disease.
Research is needed to better understand patient and provider knowledge and values about the known risks and benefits of prostate
cancer screening and treatment, as well as to develop and implement effective informed decision-making materials that accurately
convey the best evidence and can be instituted in primary care settings across varied patient groups (for example, by race,
age, or family history).
|
D |
May
2012
|
|
USPSTF I recommendations that consider family health history
|
| Bladder cancer screening |
The USPSTF concludes that the current evidence is insufficient to assess the balance of benefits and harms of screening for
bladder cancer in asymptomatic adults.
Clinical considerations pertaining to family health history:
Persons at increased risk for bladder cancer include those who work in the rubber, chemical, or leather industries, as well
as those who smoke, are men, are older, or have a family or personal history of bladder cancer.
Discussion pertaining to family health history:
Other risk factors for bladder cancer include male sex, older age, white race, infections caused by certain bladder parasites,
and a family or personal history of bladder cancer.
|
I |
August
2011
|
| Developmental dysplasia of the hip (DDH) screening |
The USPSTF concludes that evidence is insufficient to recommend routine screening for developmental dysplasia of the hip in
infants as a means to prevent adverse outcomes.
Clinical considerations pertaining to family health history:
Risk factors for DDH include female gender, family history of DDH, breech positioning, and in utero postural deformities.
Discussion pertaining to family health history:
Several fair-quality case-control and observational studies found breech positioning, family history of DDH, and female sex
to be most consistently associated with the diagnosis of DDH. However, most cases of DDH have no identifiable risk factors.
|
I |
March
2006
|
| Gestational diabetes mellitus (GDM) screening |
The USPSTF concludes that the current evidence is insufficient to assess the balance of benefits and harms of screening for
GDM, either before or after 24 weeks gestation.
Clinical considerations pertaining to family health history:
Women who are obese, older than 25 years of age, have a family history of diabetes, have a history of previous GDM, or are
of certain ethnic groups (Hispanic, American Indian, Asian, or African- American) are at increased risk of developing GDM.
Discussion pertaining to family health history:
The prevalence in women with defined high-risk factors, such as age older than 25 years, obesity, or a family history of diabetes,
ranges from 3.3%- 6.1%.
|
I |
May
2008
|
| Glaucoma screening |
The USPSTF found insufficient evidence to recommend for or against screening adults for glaucoma.
Clinical considerations pertaining to family health history:
Increased intraocular pressure, family history, older age, and being of African American descent place an individual at increased
risk for glaucoma.
Discussion pertaining to family health history:
Other important risk factors for developing primary open-angle glaucoma are age and family history of glaucoma.
|
I |
March
2005
|
| Hyperbilirubinemia screening in infants |
The USPSTF concludes that the evidence is insufficient to recommend screening infants for hyperbilirubinemia to prevent chronic
bilirubin encephalopathy.
Clinical considerations pertaining to family health history:
Risk factors for hyperbilirubinemia include exclusive breastfeeding, family history of neonatal jaundice, bruising, cephalohematoma,
ethnicity (Asian, black), maternal age (> 25 years), male sex, glucose-6-phosphate dehydrogenase deficiency, and gestational
age of < 38 weeks. The contribution of these risk factors to chronic bilirubin encephalopathy in otherwise healthy children
is not well understood.
|
I |
October
2009
|
| Impaired visual acuity in older adults screening |
The USPSTF concludes that the evidence is insufficient to assess the balance of benefits and harms of screening for visual
acuity for the improvement of outcomes in older adults.
Clinical considerations pertaining to family health history:
Risk factors for age-related macular degeneration]include smoking, family history, and white race.
|
I |
July
2009
|
| Lipid disorders in children screening |
The USPSTF concludes that the evidence is insufficient to recommend for or against routine screening for lipid disorders in
infants, children, adolescents, or young adults (up to age 20).
Rationale pertaining to family health history:
For children with familial dyslipidemia, the group most likely to benefit from screening, use of family history in screening
may be inaccurate because of variability of definitions and unreliability of information.
Clinical considerations pertaining to family health history:
The use of family history as a screening tool for dyslipidemia has variable accuracy largely because definitions of a positive
family history and lipid threshold values vary substantially. Screening using family history as defined by the National Cholesterol
Education Program and the American Academy of Pediatrics has been shown to have high rates of false negative results.
|
I |
July
2007
|
| Lung cancer screening |
The USPSTF concludes that the evidence is insufficient to recommend for or against screening asymptomatic persons for lung
cancer with either low dose computerized tomography, chest x-ray, sputum cytology, or a combination of these tests.
Discussion pertaining to family health history:
Although cigarette smoking is the major risk factor for lung cancer, other risk factors include family history, chronic obstructive
pulmonary disease, idiopathic pulmonary fibrosis, environmental radon exposure, passive smoking, asbestos exposure, and certain
occupational exposures
|
I |
May
2004
|
| Skin cancer screening |
The USPSTF concludes that the current evidence is insufficient to assess the balance of benefits and harms of using whole-body
skin examination by a primary care clinician or patient skin self-examination for the early detection of cutaneous melanoma,
basal cell cancer, or squamous cell skin cancer in the adult general population.
Clinical considerations pertaining to family health history:
The USPSTF did not examine the outcomes related to surveillance of patients at extremely high risk, such as those with familial
syndromes (for example, the familial atypical mole and melanoma syndrome).
Other risk factors for skin cancer include family history and a considerable past history of sun exposure and sunburns. Benefits
from screening are uncertain, even in high-risk patients.
|
I |
February
2009
|
| Speech and language delay in preschool children screening |
The USPSTF concludes that the evidence is insufficient to recommend for or against routine use of brief, formal screening
instruments in primary care to detect speech and language delay in children up to 5 years of age.
Clinical considerations pertaining to family health history:
The results of studies of other risk factors are inconsistent, so the USPSTF was unable to develop a list of specific risk
factors to guide primary care providers in selective screening. The most consistently reported risk factors, however, include
a family history of speech and language delay, male sex, and perinatal factors, such as prematurity and low birth-weight.
Discussion pertaining to family health history:
Other risk factors that may be associated with speech and language delay include prematurity, family history, male sex, socioeconomic
factors, and other developmental delays.
|
I |
February
2006
|
USPSTF Recommendations and Ratings
| Grade |
Recommendation |
| A |
The USPSTF strongly recommends that clinicians provide [the service] to eligible patients. The USPSTF found good evidence that [the service] improves important health outcomes and concludes that benefits substantially
outweigh harms.
|
| B |
The USPSTF recommends that clinicians provide [the service] to eligible patients. The USPSTF found at least fair evidence that [the service] improves important health outcomes and concludes that benefits
outweigh harms.
|
| C |
The USPSTF makes no recommendation for or against routine provision of [the service]. The USPSTF found at least fair evidence that [the service] can improve health outcomes but concludes that the balance of benefits
and harms is too close to justify a general recommendation.
|
| D |
The USPSTF recommends against routinely providing [the service] to asymptomatic patients. The USPSTF found at least fair evidence that [the service] is ineffective or that harms outweigh benefits.
|
| I |
The USPSTF concludes that the evidence is insufficient to recommend for or against routinely providing [the service]. Evidence that [the service] is effective is lacking, of poor quality, or conflicting, and the balance of benefits and harms
cannot be determined.
|
|
