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Expanded Newborn Screening: Information and Resources for the Family Physician - ...

Jun 1, 2017 - Each year, 4 to 5 million newborns receive state-mandated screening. Although the Advisory Committee on Heritable Disorders in Newborns and Children has identified 34 core conditions that should be incorporated into screening programs, each state manages, funds, and maintains its own ...

American Family Physician : Article

https://www.aafp.org/afp/2017/0601/p703.html

When to Suspect a Genetic Syndrome - American Family Physician

Nov 1, 2012 - Family physicians should be able to recognize findings on physical examination and history that suggest the presence of a genetic syndrome to aid in the diagnosis and treatment of potentially affected patients, as well as subspecialty referral. General themes that can alert family ...

American Family Physician : Article

https://www.aafp.org/afp/2012/1101/p826.html

Cerebrospinal Fluid Biomarkers for Detection of Alzheimer Disease in Patients with Mild...

Jun 1, 2018 - There is insufficient evidence to support the routine use of cerebrospinal fluid (CSF) biomarkers for the detection of progressive dementias in patients with mild cognitive impairment (MCI). These tests carry the risk of overdiagnosis of dementia and, therefore, overtreatment.

American Family Physician : Cochrane for Clinicians

https://www.aafp.org/afp/2018/0601/p714.html

Clinical and Personal Utility of Genetic Risk Testing - Curbside Consultation - ...

May 1, 2018 - On April 6, 2017, the U.S. Food and Drug Administration (FDA) approved marketing of the 23andMe Personal Genome Service, the first direct-to-consumer genetic test. This test uses genomic DNA collected from mail-in saliva collection kits to provide information on a patient's genetic risk...

American Family Physician : Curbside Consultation

https://www.aafp.org/afp/2018/0501/p600.html

Inborn Errors of Metabolism in Infancy and Early Childhood: An Update - American Family...

Jun 1, 2006 - Recent innovations in medical technology have changed newborn screening programs in the United States. The widespread use of tandem mass spectrometry is helping to identify more inborn errors of metabolism. Primary care physicians often are the first to be contacted by state and ...

American Family Physician : Article

https://www.aafp.org/afp/2006/0601/p1981.html

Genetic Test Results That Identify Increased Risk Do Not Change Behavior - POEMs - ...

Jul 15, 2016 - Patients informed via genetic test results that they were at increased risk of disease did not subsequently alter their behaviors. For example, persons at increased risk of diabetes mellitus or hypertension were no more likely to change their diet or increase their physical activity. ...

American Family Physician : POEMs

https://www.aafp.org/afp/2016/0715/p168.html

Down Syndrome: Prenatal Risk Assessment and Diagnosis - American Family Physician

Aug 15, 2000 - Down syndrome (trisomy 21) is the most commonly recognized genetic cause of mental retardation. The risk of trisomy 21 is directly related to maternal age. All forms of prenatal testing for Down syndrome must be voluntary. A nondirective approach should be used when presenting patients ...

American Family Physician : Article

https://www.aafp.org/afp/2000/0815/p825.html

Pharmacogenetic Testing—An Unfulfilled Promise - Editorials - American Family Physician

Oct 1, 2015 - Family physicians should not naively accept a new technology because it is the latest trend. We need to assess the clinical utility of potential applications of genetic information, adopting them when they improve patient-oriented outcomes and avoiding them when they simply add costs ...

American Family Physician : Editorials

https://www.aafp.org/afp/2015/1001/p558.html

Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer in ...

Jan 15, 2015 - The U.S. Preventive Services Task Force (USPSTF) recommends that primary care clinicians screen women who have family members with breast, ovarian, tubal, or peritoneal cancer with one of several screening tools designed to identify a family history that may be associated with an ...

American Family Physician : U.S. Preventive Services Task Force

https://www.aafp.org/afp/2015/0115/od1.html

Screening for Hereditary Cancer Syndromes - Curbside Consultation - American Family ...

Jan 15, 2015 - Family physicians play a key role in identifying patients in need of increased cancer surveillance because of a personal or family history of cancer. How does one know if a patient warrants genetic testing for hereditary cancer predisposition?

American Family Physician : Curbside Consultation

https://www.aafp.org/afp/2015/0115/p125.html

Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer in ...

Jan 15, 2015 - L.M. is a 37-year-old nonsmoking woman who is not taking any medications and has no significant past medical problems. Three of her female relatives have a history of breast cancer: her mother (diagnosed at 49 years of age, before menopause), her paternal grandmother (diagnosed at 72 ...

American Family Physician : Putting Prevention into Practice

https://www.aafp.org/afp/2015/0115/p119.html

Issues in Newborn Screening for Phenylketonuria - American Family Physician

Oct 1, 1999 - The blood sample for phenylketonuria (PKU) screening should be obtained at least 12 hours after the infant's birth. Newborn screening for PKU has largely eliminated mental retardation caused by this disease. If the first phenylalanine test demonstrates positive results, a repeat test ...

American Family Physician : Article

https://www.aafp.org/afp/1999/1001/p1462.html

Screening for Genetic Risk of Breast Cancer - American Family Physician

Jan 1, 1999 - Approximately 10 to 15 percent of all breast cancers are thought to be familial and about one third of these cases are due to an inherited mutation in a BRCA1 or BRCA2 breast cancer-susceptibility gene. The lifetime incidence of breast cancer in mutation carriers is above 50 percent, ...

American Family Physician : Article

https://www.aafp.org/afp/1999/0101/p99.html

The CDC's EGAPP Initiative: Evaluating the Clinical Evidence for Genetic Tests - ...

Dec 1, 2009 - Advertisement << Previous article Next article >> Dec 1, 2009 Issue Editorials The CDC's EGAPP Initiative: Evaluating the Clinical Evidence for Genetic Tests ALFRED O. BERG, MD, MPH, University of Washington, Seattle, Washington Am Fam Physician. 2009 Dec 1;80(11):1218-1220. Family...

American Family Physician : Editorials

https://www.aafp.org/afp/2009/1201/p1218.html

Genetic Risk Assessment and BRCA Mutation Testing for Breast and Ovarian Cancer ...

Nov 15, 2006 - Case study: A 46-year-old woman comes to your office to discuss breast cancer screening. She heard a physician on television who mentioned a genetic test that can tell if a woman will get breast cancer.

American Family Physician : Putting Prevention into Practice

https://www.aafp.org/afp/2006/1115/p1759.html

Practice Guidelines - Apr 15, 2006 - American Family Physician

Apr 15, 2006 - The American College of Obstetricians and Gynecologists (ACOG) has released recommendations for screening for Tay-Sachs disease.

American Family Physician : Practice Guidelines

https://www.aafp.org/afp/2006/0415/p1471a.html

Practice Guidelines - Apr 15, 2006 - American Family Physician

Apr 15, 2006 - The American College of Obstetricians and Gynecologists (ACOG) has released an opinion statement on issues specific to pregnancy in obese women. Women who are obese are at increased risk of complications of pregnancy such as gestational hypertension and diabetes, preeclampsia, fetal ...

American Family Physician : Practice Guidelines

https://www.aafp.org/afp/2006/0415/p1471.html

At-Home Genetic Tests - Curbside Consultation - American Family Physician

Feb 1, 2006 - Current genetic tests for complex diseases are not diagnostic. They instead provide important information about susceptibility and can be key in prevention.

American Family Physician : Curbside Consultation

https://www.aafp.org/afp/2006/0201/p540.html

Genetic Risk Assessment and BRCA Mutation Testing for Breast and Ovarian Cancer ...

Mar 1, 2006 - This statement summarizes the U.S. Preventive Services Task Force (USPSTF) recommendations on genetic risk assessment and BRCA mutation testing for breast and ovarian cancer susceptibility and the supporting scientific evidence.

American Family Physician : U.S. Preventive Services Task Force

https://www.aafp.org/afp/2006/0301/p869.html

Is Genetic Testing for Cytochrome P450 Polymorphisms Ready for Implementation? - ...

Aug 1, 2007 - Advertisement << Previous article Next article >> Aug 1, 2007 Issue Editorials Is Genetic Testing for Cytochrome P450 Polymorphisms Ready for Implementation? DAVID B. MATCHAR, MD, Duke Center for Clinical Health Policy Research, Duke University Medical Center, Durham, North Carolina...

American Family Physician : Editorials

https://www.aafp.org/afp/2007/0801/p348.html

Genetic Testing: When to Test, When to Refer - Editorials - American Family Physician

Jul 1, 2005 - Advertisement << Previous article Next article >> Jul 1, 2005 Issue Editorials Genetic Testing: When to Test, When to Refer ROBERTA A. PAGON, M.D., University of Washington School of Medicine, Seattle, Washington Am Fam Physician. 2005 Jul 1;72(01):33-34. Related Article This...

American Family Physician : Editorials

https://www.aafp.org/afp/2005/0701/p33.html

Practice Guidelines - Oct 15, 2004 - American Family Physician

Oct 15, 2004 - Advertisement << Previous article Next article >> Oct 15, 2004 Issue Practice Guideline Briefs CARRIE MORANTZ BRIAN TORREY Am Fam Physician. 2004 Oct 15;70(8):1592. First-Trimester Screening for Genetic Defects The Committee on Genetics of the American College of Obstetricians and...

American Family Physician : Practice Guidelines

https://www.aafp.org/afp/2004/1015/p1592.html

Practice Guidelines - Oct 15, 2004 - American Family Physician

Oct 15, 2004 - Advertisement << Previous article Next article >> Oct 15, 2004 Issue Practice Guideline Briefs CARRIE MORANTZ BRIAN TORREY Am Fam Physician. 2004 Oct 15;70(8):1592-1594. CDC Report on Cancer Mortality Surveillance The National Center for Chronic Disease Prevention and Health...

American Family Physician : Practice Guidelines

https://www.aafp.org/afp/2004/1015/p1592a.html

Pros and Cons of Genetic Screening for Breast Cancer - Editorials - American Family ...

Jan 1, 1999 - Advertisement << Previous article Next article >> Jan 1, 1999 Issue Editorials Pros and Cons of Genetic Screening for Breast Cancer HENRY T. LYNCH, M.D., and JANE F. LYNCH, B.S.N., Creighton University School of Medicine, Omaha, Nebraska Am Fam Physician. 1999 Jan 1;59(1):43-48....

American Family Physician : Editorials

https://www.aafp.org/afp/1999/0101/p43.html

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