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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

Cerebral Palsy: An Overview - American Family Physician

Jan 1, 2006 - The presentation of cerebral palsy can be global mental and physical dysfunction or isolated disturbances in gait, cognition, growth, or sensation. It is the most common childhood physical disability and affects 2 to 2.5 children per 1,000 born in the United States. The differential ...

American Family Physician : Article

https://www.aafp.org/afp/2006/0101/p91.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

Diagnosis and Management of G6PD Deficiency - American Family Physician

Oct 1, 2005 - Glucose-6-phosphate dehydrogenase deficiency, the most common enzyme deficiency worldwide, causes a spectrum of disease including neonatal hyperbilirubinemia, acute hemolysis, and chronic hemolysis. Persons with this condition also may be asymptomatic. This X-linked inherited disorder ...

American Family Physician : Article

https://www.aafp.org/afp/2005/1001/p1277.html

Diagnosis and Managment of Fragile X Syndrome - American Family Physician

Jul 1, 2005 - To complement the 2005 Annual Clinical Focus on medical genomics, AFP will be publishing a series of short reviews on genetic syndromes. This series was designed to increase awareness of these diseases so that family physicians can recognize and diagnose children with these disorders ...

American Family Physician : Article

https://www.aafp.org/afp/2005/0701/p111.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

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

Family History: The Three-Generation Pedigree - American Family Physician

Aug 1, 2005 - The collection of a family history ranges from simply asking patients if family members have the same presenting illness to diagramming complex medical and psychosocial relationships as part of a family genogram. The three-generation pedigree provides a pictorial representation of ...

American Family Physician : Article

https://www.aafp.org/afp/2005/0801/p441.html

Genetic Factors In Drug Metabolism - American Family Physician

Jun 1, 2008 - Patients vary widely in their response to drugs. Having an understanding of the pharmacokinetic and pharmacodynamic properties of various medications is importantwhen assessing ethnic differences in drug response. Genetic factors can account for 20 to 95 percent of patient variability. ...

American Family Physician : Article

https://www.aafp.org/afp/2008/0601/p1553.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

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

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

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

Genetics - American Family Physician

Nov 1, 2019 - This collection features AFP content on genetics and related issues, including family medical history, genetic testing, and specific syndromes (fetal alcohol spectrum disorders, fragile X syndrome, Down Syndrome, Klinefelter syndrome, Prader-Willi syndrome, Turner syndrome). This ...

American Family Physician : AFP By Topic

https://www.aafp.org/afp/topicModules/viewTopicModule.htm?topicModuleId=56

Genomic Medicine for Underserved Minority Populations in Family Medicine - Editorials -...

Aug 1, 2005 - Advertisement << Previous article Next article >> Aug 1, 2005 Issue Editorials Genomic Medicine for Underserved Minority Populations in Family Medicine NADEEM QURESHI, M.SC., and JOE KAI, M.D. University of Nottingham Faculty of Medicine and Health Sciences,Nottingham,United Kingdom...

American Family Physician : Editorials

https://www.aafp.org/afp/2005/0801/p386.html

Genomics and the Family Physician: Realizing the Potential - Editorials - American ...

Nov 1, 2004 - Advertisement << Previous article Next article >> Nov 1, 2004 Issue Editorials Genomics and the Family Physician: Realizing the Potential FRANCIS COLLINS, M.D., PH.D., National Human Genome Research Institute, Washington, D.C. Am Fam Physician. 2004 Nov 1;70(9):1637-1642. The dawning...

American Family Physician : Editorials

https://www.aafp.org/afp/2004/1101/p1637.html

Hereditary Hemochromatosis - American Family Physician

Feb 1, 2013 - Hereditary hemochromatosis is an autosomal recessive disorder that disrupts the body’s regulation of iron. It is the most common genetic disease in whites. Men have a 24-fold increased rate of iron-overload disease compared with women. Persons who are homozygous for the HFE gene ...

American Family Physician : Article

https://www.aafp.org/afp/2013/0201/p183.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

Inborn Errors of Metabolism: From Preconception to Adulthood - American Family Physician

Jan 1, 2019 - Inborn errors of metabolism (IEM), although individually rare, occur in 1 out of every 1,500 births. The first opportunity to detect IEM occurs during preconception counseling, when pregnant women and couples considering future pregnancies can undergo carrier screening. For individuals ...

American Family Physician : Article

https://www.aafp.org/afp/2019/0101/p25.html

Integrating Genetic Counseling into Family Medicine - Editorials - American Family ...

Dec 15, 2005 - Advertisement << Previous article Next article >> Dec 15, 2005 Issue Editorial Integrating Genetic Counseling into Family Medicine JEFFREY R. MARTIN, M.D. ADAM S. WILIKOFSKY, PH.D. Lancaster General Hospital Family Medicine Residency Program Lancaster, Pennsylvania Am Fam Physician....

American Family Physician : Editorials

https://www.aafp.org/afp/2005/1215/p2444.html

Is "Precision Medicine" Ready to Use in Primary Care Practice? No: It Is Barely Ready ...

Dec 15, 2017 - Precision medicine is ultimately only a tool, and just as it might be used to facilitate better outcomes, if adopted prematurely, it may paradoxically increase inappropriate care. Therefore, primary care physicians must wait for carefully conducted randomized studies to demonstrate ...

American Family Physician : Editorials: Controversies in Family Medicine

https://www.aafp.org/afp/2017/1215/p769.html

Is "Precision Medicine" Ready to Use in Primary Care Practice? Yes: It Offers Patients ...

Dec 15, 2017 - The question that primary care physicians should be considering is not whether precision medicine is ready for prime time in their practices. Rather, they should be considering how they will adjust their practice patterns to the changing landscape of medicine to maximize patient benefit...

American Family Physician : Editorials: Controversies in Family Medicine

https://www.aafp.org/afp/2017/1215/p767.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

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

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