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Noonan Syndrome - American Family Physician

Jan 1, 2014 - Noonan syndrome is a common genetic disorder that causes multiple congenital abnormalities and a large number of potential health conditions. Most affected individuals have characteristic facial features that evolve with age; a broad, webbed neck; increased bleeding tendency; and a high...

American Family Physician : Article

https://www.aafp.org/afp/2014/0101/p37.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

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

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

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

Pharmacogenetics: Using Genetic Information to Guide Drug Therapy - American Family ...

Oct 1, 2015 - Clinical pharmacogenetics, the use of genetic data to guide drug therapy decisions, is beginning to be used for medications commonly prescribed by family physicians. However, clinicians are largely unfamiliar with principles supporting clinical use of this type of data. For example, ...

American Family Physician : Article

https://www.aafp.org/afp/2015/1001/p588.html

The Effect of Cytochrome P450 Metabolism on Drug Response, Interactions, and Adverse ...

Aug 1, 2007 - Cytochrome P450 enzymes are essential for the metabolism of many medications. Although this class has more than 50 enzymes, six of them metabolize 90 percent of drugs, with the two most significant enzymes being CYP3A4 and CYP2D6. Genetic variability (polymorphism) in these enzymes may ...

American Family Physician : Article

https://www.aafp.org/afp/2007/0801/p391.html

Role of the Family Physician in the Care of Children with Down Syndrome - American ...

Dec 15, 2014 - Down syndrome is the most common chromosomal abnormality, occurring in one in 691 live births in the United States each year. Prenatally, the sequential contingent test for aneuploidy screening is highly sensitive for Down syndrome and has a low false-positive rate. The diagnosis should...

American Family Physician : Article

https://www.aafp.org/afp/2014/1215/p851.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

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

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

Turner Syndrome: Diagnosis and Management - American Family Physician

Aug 1, 2007 - Turner syndrome occurs in one out of every 2,500 to 3,000 live female births. The syndrome is characterized by the partial or complete absence of one X chromosome (45,X karyotype). Patients with Turner syndrome are at risk of congenital heart defects (e.g., coarctation of aorta, ...

American Family Physician : Article

https://www.aafp.org/afp/2007/0801/p405.html

Fetal Chromosomal Abnormalities: Antenatal Screening and Diagnosis - American Family ...

Jan 15, 2009 - Pregnant women of all ages should be offered screening and invasive diagnostic testing for chromosomal abnormalities before 20 weeks' gestation. New developments in screening methods have increased the number of options for patients. Diagnostic options include chorionic villus sampling ...

American Family Physician : Article

https://www.aafp.org/afp/2009/0115/p117.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

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 "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

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

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

Pharmacogenentics: Using DNA to Optimize Drug Therapy - American Family Physician

Oct 15, 2007 - Pharmacogenetics is a growing field of research that focuses on the interaction between genetics and drug therapy. Relationships between genetic variation and drug effect have been observed for a growing number of commonly used drugs. Validation studies may soon define the use of these ...

American Family Physician : Article

https://www.aafp.org/afp/2007/1015/p1179.html

Opportunities to Improve Outcomes in Sickle Cell Disease - American Family Physician

Jul 15, 2006 - Sickle cell disease represents a spectrum of inherited hemoglobin disorders. The pathophysiology involves abnormalities not just in red blood cells but also vascular endothelium, white blood cell function, coagulation, and inflammatory response. Known sequelae of sickle cell disease ...

American Family Physician : Article

https://www.aafp.org/afp/2006/0715/p303.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

Klinefelter Syndrome - American Family Physician

Dec 1, 2005 - To complement the 2005 Annual Clinical Focus on medical genomics, AFP is 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 and ...

American Family Physician : Article

https://www.aafp.org/afp/2005/1201/p2259.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

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

Prader-Willi Syndrome - American Family Physician

Sep 1, 2005 - To complement the 2005 Annual Clinical Focus on medical genomics, AFP is 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 and ...

American Family Physician : Article

https://www.aafp.org/afp/2005/0901/p827.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

Role of the Family Physician in the Management of Cystic Fibrosis - Editorials - ...

Jun 15, 2015 - Advertisement << Previous article Next article >> Jun 15, 2015 Issue Editorials Role of the Family Physician in the Management of Cystic Fibrosis DOUGLAS LEWIS, MD, Via Christi Family Medicine Residency, Via Christi Adult Cystic Fibrosis Specialty Clinic, Wichita, Kansas Am Fam...

American Family Physician : Editorials

https://www.aafp.org/afp/2015/0615/p822.html

Recognition and Management of Hereditary Hemochromatosis - American Family Physician

Mar 1, 2002 - Hereditary hemochromatosis is the most common inherited single-gene disorder in people of northern European descent. It is characterized by increased intestinal absorption of iron, with deposition of the iron in multiple organs. Previously, the classic description was combined diabetes ...

American Family Physician : Article

https://www.aafp.org/afp/2002/0301/p853.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

Primary Care of Infants and Young Children with Down Syndrome - American Family Physician

Jan 15, 1999 - Down syndrome is caused by triplicate material of chromosome 21. The syndrome has a variable physical expression, but congenital cardiac defects, transient myelodysplasia of the newborn and duodenal atresia are highly specific for this chromosomal disorder. Routine health maintenance is...

American Family Physician : Article

https://www.aafp.org/afp/1999/0115/p381.html

Cytochrome P450: New Nomenclature and Clinical Implications - American Family Physician

Jan 1, 1998 - Many drug interactions are a result of inhibition or induction of cytochrome P450 enzymes (CYP450). The CYP3A subfamily is involved in many clinically significant drug interactions, including those involving nonsedating antihistamines and cisapride, that may result in cardiac ...

American Family Physician : Article

https://www.aafp.org/afp/1998/0101/p107.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

Examining the Heart of Family Medicine: Family History - Editorials - American Family ...

Apr 15, 2010 - Advertisement << Previous article Next article >> Apr 15, 2010 Issue Editorials Examining the Heart of Family Medicine: Family History W. GREGORY FEERO, MD, PhD, National Human Genome Research Institute, Bethesda, Maryland Am Fam Physician. 2010 Apr 15;81(8):961-962. Family history...

American Family Physician : Editorials

https://www.aafp.org/afp/2010/0415/p961.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

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

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

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

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

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

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

Personalizing Prevention: The U.S. Surgeon General's Family History Initiative - ...

Jan 1, 2005 - Advertisement << Previous article Next article >> Jan 1, 2005 Issue Editorials Personalizing Prevention: The U.S. Surgeon General’s Family History Initiative RICHARD H. CARMONA, M.D., M.P.H., and DANIEL J. WATTENDORF, M.D. Am Fam Physician. 2005 Jan 1;71(1):36-39. An immense gap...

American Family Physician : Editorials

https://www.aafp.org/afp/2005/0101/p36.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

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

NIH Consensus Statement on Phenylketonuria - Practice Guidelines - American Family ...

Apr 1, 2001 - The National Institutes of Health (NIH) has released a statement on the screening and management of phenylketonuria (PKU). PKU, a form of hyperphenylalaninemia, is a rare metabolic disorder that is caused by a deficiency of the liver enzyme phenylalanine hydroxylase.

American Family Physician : Practice Guidelines

https://www.aafp.org/afp/2001/0401/p1430.html

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