- 47,+13 (Trisomy 13, Patau syndrome)
A description of the Trisomy 13 genetic abnormality.
- 47,+18 (Trisomy 18, Edwards syndrome)
A description of the Trisomy 18 genetic abnormality.
- 47, +21 (Trisomy 21, Down syndrome)
A description of the Trisomy 21 genetic abnormality.
- AAFP Cancer Screening Guidelines
This document is a compilation of the cancer screening guidelines from most major medical organizations.
- AAFP Core Educational Guidelines in Medical Genetics
A list endorsed by the American Academy of Family Physicians to provide a list of core educational guidelines for family practice residents.
- A Brief Primer on Genetic Testing
This webpage provides basic information on genetic testing including what genetic testing is, what tests are available, and what the future holds for these tests.
- Addressing The Cancer Burden: At A Glance 2010
This overview page presents information on the prevalence of cancer in the US, breaking the incidence down by demographic category. Links to more comprehensive literature are included at the bottom of the page.
- Adolescent/adult family history questionnaire
This is a comprehensive, paper-based screening form that includes past medical history, current exposures, reproductive history for females, and extended family history for a lengthy list of potentially inherited conditions, as well as a place for office notes regarding significant findings and plans.
- American Academy of Family Physicians: Policy and Advocacy
- American Academy of Pediatrics Policy Statements Authored by the Committee on Genetics
The Committee on Genetics studies and makes recommendations to the Board of Directors on recent advances in genetics and provides support to chapters on state legislative issues as they relate to genetics. This is a description of current AAP policy statements authored by the COG.
- American Cancer Society
The American Cancer Society has many resources for both patients and physicians.
- American College of Medical Genetics
The American College of Medical Genetics (ACMG) provides education, resources and a voice for the medical genetics profession. To make genetic services available to and improve the health of the public, the ACMG promotes the development and implementation of methods to diagnose, treat and prevent genetic diseases (From their Website). The website Includes information on resources, practice guidelines, and policy statements.
- American College of Medical Genetics: Membership Directory
The American College of Medical Genetics is composed primarily of doctoral (MD, PhD, DO) and master's level (genetic counselors) medical genetics professionals. This is a searchable database of all ACMG members by name or location.
- American Society of Human Genetics
The American Society of Human Genetics (ASHG), founded in 1948, is the primary professional membership organization for human genetics specialists worldwide. The Society’s nearly 8,000 members include researchers, academicians, clinicians, laboratory practice professionals, genetic counselors, nurses and others who have a special interest in the field of human genetics. It aims to: Share research results at annual meetings and in The American Journal of Human Genetics, Advance genetic research by advocating for research support, Enhance genetics education by preparing future professionals and informing the public, and Promote genetic services and support responsible social and scientific policies (From their Website).
- Americans with Disabilities Act of 1990
The website for the Americans with Disabilities Act of 1990 contains a section for other federal agencies with ADA responsibilities, general ADA publications, and other resources.
- APC-Associated Polyposis Conditions
This article describes the clinical features of APC-associated polyposis conditions, which include familial adenomatous polyposis (FAP), attenuated FAP, Gardner syndrome, and Turcot syndrome.
- APGAR score
APGAR is a quick test performed at 1 and 5 minutes after birth. This document discusses how the APGAR score can help determine how well the baby tolerated the birthing process.
- APHMG - Association of Professors of Human and Medical Genetics
The website for the Association of Professors of Human and Medical Genetics.
This article describes the clinical features of ataxia-telangiectasia (A-T), including genetic testing, diagnosis, and management of the condition.
- Autism Spectrum Disorders (Pervasive Developmental Disorders)
Autism Spectrum Disorders (Pervasive Developmental Disorders) Informational Page
- Autosomal Dominant Inheritance
Diagrams of classic autosomal dominant inheritance and pedigree.
- Autosomal Recessive Inheritance
Images and descriptions of autosomal recessive inheritance.
- BRACAnalysis Technical Specifications
This article includes information on the four different clinically available BRCA tests for the testing of hereditary breast cancer syndrome: comprehensive full-gene sequence analysis including five specific rearrangements, single site testing for known familial mutations, multisite test, and the rearrangement test. It also includes information on the performance characteristics and interpretive criteria of the tests.
- BRACAnalysis® Large Rearrangement Test (BART) Criteria
In August 2002, Myriad launched an enhancement to the BRACAnalysis test to detect five common large rearrangements. The BRACAnalysis Rearrangement Test, or BART, launched in August 2006, is designed to detect large rearrangements beyond these five. For patients who meet the defined clinical criteria, BART will automatically be performed concurrently with the sequence analysis of Comprehensive BRACAnalysis®.
- BRCA1 and BRCA2 Hereditary Breast/Ovarian Cancer
This article provides comprehensive information on the BRCA1 and BRCA2 and Hereditary Breast/Ovarian Cancer. It includes information on prevalence, screening, diagnosis, counseling and management, as well as extensive information on genetic testing and the genes themselves.
- Calculating Revised Carrier Risks -- Bayes Analysis
Bayesian analysis allows one to compare the likelihood of 2 outcomes based on recognized facts. This approach can be used to calculate a variety of probabilities important in medical genetics, including the likelihood of being a carrier following a negative carrier screen. To perform a Bayes analysis in this situation, one must first define the individual's initial carrier risk (prior probability) -- usually based on pedigree calculations or ethnicity data. That initial risk can then be modified based on the negative carrier screen result to determine a revised carrier risk (posterior probability). An example of a common calculation is shown below.
- Cancer Family History Red Flags
Lists of family history red flags or findings that should prompt investigation or genetics referral.
- Cancer Genetics Risk Assessment and Counseling
The NCI has a nice discussion of the genetic counseling process tailored to the needs of patients at risk for or diagnosed with hereditary cancers.
- Cancer Genetics Services Directory - Search
A database of professionals who provide cancer genetics services, including counseling and testing, from the National Cancer Institute. The database is searchable by type of cancer, family cancer syndrome, location, or name.
- CDC Fast Stats: Birth Defects/Congenital Anomalies
CDC Fast Stats: Birth Defects/Congenital Anomalies
- Chromosomal Deletions
A description and pictorial depiction of chromosomal deletions.
- Chronic granulocytic leukemia (CGL)
This webpage provides a brief summary of Chronic granulocytic leukemia (CGL) and includes an image of cells affected by this form of cancer.
- Clinical genetics evaluation in identifying the etiology of autism spectrum disorders.
Guidelines for physicians in order to assure (1) Assuring an accurate diagnosis of autism before proceeding with any investigation. (2) Discussing testing options, diagnostic yields, and patient investment before proceeding with an evaluation. (3) Communication and coordination with the patient's medical home. (4) Assessing the continuously expanding and evolving list of available laboratory testing modalities in light of evidence-based medicine. (5) Recognizing expanded phenotypes of well-described syndromic and metabolic conditions that encompass autism spectrum disorders. (6) Defining an individualized evaluation scheme based on the unique history and clinical features of a given patient.
This web page describes the congenital abnormality clubfoot, including a description of the deformity and pictures, as well as a description of treatment.
- Code of Ethics from the National Society of Genetic Counselors
Genetic counselors are health professionals with specialized education, training, and experience in medical genetics and counseling. The National Society of Genetic Counselors (NSGC) is the leading voice, authority and advocate for the genetic counseling profession. As such, the NSGC is an organization that furthers the professional interests of genetic counselors, promotes a network for communication within the profession, and deals with issues relevant to human genetics. With the establishment of this code of ethics the NSGC affirms the ethical responsibilities of its members and provides them with guidance in their relationships with self, clients, colleagues, and society. NSGC members are expected to be aware of the ethical implications of their professional actions and to adhere to the guidelines and principles set forth in this code.
- Complex Chromosome Rearrangements
A description and pictorial depiction of complex chromosome rearrangements
- Congenital Anomalies
Questions to Ask When There Is a Family History of Congenital Anomalies
- Consanguinity Fact Sheet -- Debunking Common Myths
An article by Robin Bennett, MS, CGC debunking common myths of consanguinity.
- Constitution of the United States
The Constitution of the United States comprises the primary law of the U.S. Federal Government. It also describes the three chief branches of the Federal Government and their jurisdictions. In addition, it lays out the basic rights of citizens of the United States. The Constitution of the United States is the oldest Federal constitution in existence and was framed by a convention of delegates from twelve of the thirteen original states in Philadelphia in May 1787. The Constitution is the landmark legal document of the United States. Files are available in ASCII text and Adobe Portable Document Format (PDF)
- Definition of Genetic Counseling
MedicineNet.com provides a general discussion about genetic counseling, including the psychosocial component of the process.
- Deletion of 8p in a child with normal intelligence-abstract
The case is presented of a female infant with a distal deletion of 8p (8p23.1-->pter) whose development was monitored over a 5-year period from 12 months of age. Although previous literature has suggested that 8p deletion is associated with mild to moderate intellectual disability, the child reported here has normal intelligence. Despite initial delays in gross motor and language skills, cognitive development (assessed with the Bayley Scales of Infant Development) and intellectual ability (measured on the Stanford-Binet Intelligence Scale) were within average range. It is argued that the small number of previous case reports may have created a misleading impression of intellectual development in individuals with distal deletions of 8p.
- Detailed Information About Amniotic Band Syndrome
This web page provides detailed information about amniotic band syndrome, including a brief description of ABS, causes, incidence, diagnosis, interventions, and treatment.
- Disability Etiquette
The City of San Antonio, Texas and their Disability Advisory Committee prepared the Disability Etiquette Handbook. The City of Sacramento (with permission of City of San Antonio) relied on this site for content and guidance in preparing this ADA Web Site. Please follow this link and visit this award winning site. Special thanks to Judy Babbitt of the City of San Antonio Disability Access Office, Planning Department.
A description and pictorial depiction of chromosomal duplications.
- Duty to Recontact
An article discussing the duty to recontact patients who may benefit from additional knowledge
- Duty to Warn
Guidelines to help make the decision to breach patient's confidentiality.
- Dysmorphology Assessment of the Newborn
A summary, history and examination checklist, and communication strategies for assessment of a newborn with dysmorphology.
- Enzyme Analysis
Gene products may act as enzymes in the body. Measurement of enzyme activity in the laboratory can provide information about the functionality of the gene producing the enzyme.
- Ethical Issues With Genetic Testing in Pediatrics
Advances in genetic research promise great strides in the diagnosis and treatment of many childhood diseases. However, emerging genetic technology often enables testing and screening before the development of definitive treatment or preventive measures. In these circumstances, careful consideration must be given to testing and screening of children to ensure that use of this technology promotes the best interest of the child. This statement reviews considerations for the use
of genetic technology for newborn screening, carrier testing, and testing for susceptibility to late-onset conditions.
Recommendations are made promoting informed participation by parents for newborn screening and limited
use of carrier testing and testing for late-onset conditions in the pediatric population. Additional research and education in this developing area of medicine are
- Ethnicity and Autosomal Recessive Conditions
Some autosomal recessive disorders are known to occur more frequently in people of specific ethnic backgrounds.
A description of the place of eugenics in genetics knowledge.
- Examples of Available Genetic Tests
As of October 2009, the GeneTests website genetic testing database listed 1,550 genetic disorders with clinically available genetic tests.
- Fact Sheet on Genetic Testing for Breast and Ovarian Cancer Susceptibility
This article discusses how Genomics and Health are tied with Breast and Ovarian Cancer and Family Health History.
- Fanconi Anemia
Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk of malignancy.
- Fanconi Anemia from OMIM
Fanconi anemia is an autosomal recessive disorder affecting all bone marrow elements and associated with cardiac, renal, and limb malformations as well as dermal pigmentary changes.
- Final Family History
Maria's final family history pedigree chart.
- Final Recommendation Statement BRCA-related Cancer
- Fluorescent in situ hybridization (FISH)
Fluorescent in situ hybridization (FISH) technology is useful for the detection of structural chromosome abnormalities too small to be noted on a routine karyotype.
- Gel Electrophoresis
Gel electrophoresis is the process of moving substances (e.g., DNA, RNA, or protein) through a gel using an electric current. Smaller pieces move through the gel more quickly than larger ones. The different rate of travel through the gel permits separation of different-sized substances. Molecular testing most commonly uses gel electrophoresis to separate various-sized DNA pieces in a sample.
This website allows users to search for peer-reviewed, expert information on a specific genetic condition.
- GeneReviews-Autism Spectrum Disorders
Definition, causes, and genetic counseling for Autism Spectrum Disorders.
The GeneTests website offers an outstanding series of expert-authored GeneReviews that provide important information for clinicians to know about diagnosis, natural history, and genetic testing for genetic conditions. GeneTests.org also maintains databases of genetic testing laboratories and medical genetics clinics. There is no cost to use this website.
The GeneTests Web site is a publicly funded medical genetics information resource developed for physicians, other healthcare providers, and researchers, available at no cost to all interested persons. (From Their Website)
- Genetests Clinic Directory
The Clinic Directory is a voluntary listing of US and international genetics clinics providing genetic evaluation and genetic counseling. It lists services, provides appointment contact information and links to clinic Websites, and information about clinic staff certification and credentials (From their Website).
- Genetic Alliance
Genetic Alliance is a coalition of genetic advocacy organizations, health professionals, and health companies. The site contains a comprehensive, searchable directory of support and advocacy organizations. It also acts as a network of "stakeholders in the genetics community" to define policy, promote research, and protect the interests of its members.
- Genetic and Rare Diseases Information Center (GARD)
This center was established by the National Human Genome Research Institute and the Office of Rare Diseases. GARD includes specific information on: what is known about a genetic or rare disease, what research studies are being conducted, what genetic testing and genetic services are available, which advoacy groups to contact for a genetic or rare disease, and what has been written recently about a genetic or rare disease in medical journals (From their Website). The Information Center provides assistance to patients and families, health professionals, and other interested parties." It receives questions by phone, e-mail, fax, or mail and will respond in English or in Spanish.
- Genetic Health
This is a website providing helpful information about general genetics, the genetic testing process, and ethical and legal issues related to genetic diagnosis, research participation, resources, and managing your risk. The site also has information describing a few adult-onset genetic conditions.
- Genetics/Birth Defects Topics
This section of MedlinePlus has a list of about 100 genetic conditions and birth defects. For each condition listed, there are many links to reputable online resources for general disease information, current research, diagnostic testing, and support organizations.
- Genetics and Health Insurance State Anti-Discrimination Laws
A table which provides a current summary of state laws pertaining to the use of genetic information in health insurance. Restrictions on the use of genetic information in health insurance may address the use of genetic information in individual insurance, group insurance or both.
- Genetics Education Center
This website is for educators interested in human genetics. It contains many links about The Human Genome Project, Genetic Education Resources, Networking, and Genetic Programs/Resources.
- Genetics Home Reference
The Genetics Home Reference website provides consumer-friendly information about the effects of genetic variations on human health, and is a guide to understanding genetic conditions (From their Website). It offers information about basic genetics, some genetic diseases and the underlying etiology of such diseases, and many helpful illustrations.
- Genetics Pedigree Form
Genetics Pedigree Form
- Genetic Testing for BRCA1 and BRCA2: It's Your Choice
Information Resource for Genetic Testing for BRCA1 and BRCA2
- Genetic Testing in Children and Adolescents, Points to Consider
Genetic Testing in Children and Adolescents, Points to Consider
- Genogram Template
An example of a general genogram with many symbols and their relationships to the patient; includes a key for common nomenclature. Genograms allow the visualization of hereditary patterns within a family.
- Growth Charts for Children With Down Syndrome
The site is maintained by the parent of a girl with Down syndrome and provides growth charts for the height, weight, and head circumference of females and males by age.
- Hodgkin's lymphoma
This webpage provides basic information on Hodgkin's lymphoma as well as images of this cancer's effect on cells and a patient.
- Huntington's Disease Society of America
The Huntington's Disease Society of America (HDSA) has a national office that produces and distributes, free of charge, publications and informational materials on Huntingon Disease (HD) and maintains a toll-free information hotline to assist physicians, patients and family members. Through 12 HDSA regions, 38 volunteer-based chapters and affiliates, 200+ support groups, they reach out across the nation to offer HD patients and their families guidance, encouragement, resource information and leadership opportunities at HDSA events, meetings and seminars (From their Website).
- Huntington Disease
This web page provides a summary of the characteristics of Huntington Disease, as well information on the genetic testing used to diagnose the disease.
This web page describes the background, pathophysiology, mortality and morbidity, as well as the clinical aspects such as causes, symptoms, and treatment of the abnormality hypospadias.
- Index of Rare Diseases
This is the list of diseases currently covered in the Rare Disease Database (From their Website). With every disease, there is a link that provides a general discussion on the disorder, as well as a list of organizations and resources.
- Infant/child family history questionnaire
A form for filling out an infant or child's family history.
- Infant/child family history questionnaire
This is a comprehensive, paper-based screening form that includes a child's past medical history, pregnancy and birth history, and maternal and paternal family histories for a lengthy list of potentially inherited conditions, as well as a place for office notes regarding significant findings and plans.
- Informed Consent
Informed consent allows a patient to make fully educated healthcare decisions.
- Informed Consent during Genetic Testing
Obtaining informed consent from patients is a vital part of the genetic testing protocol. Written documentation of informed consent is ideal. This page provides a list of what is generally included in informed consent.
A description and pictorial depiction of chromosomal insertions.
- International Code of Medical Ethics of the World Medical Association
A code of medical ethics which describes the duties of doctors in general, to the sick, and to eachother.
- International Society of Nurses in Genetics
The International Society of Nurses in Genetics (ISONG) is a global nursing specialty organization dedicated to fostering the scientific and professional growth of nurses in human genetics and genomics worldwide. Its mission is to foster the scientific, professional, and personal development of members in the management of genomic information. The website encourages users to incorporate new knowlege about human genetics into their practice, education and research activites. It contains documents prepared by members of ISONG as well as links to nursing and genetic sites which we find informative and helpful (From their Website).
A description and pictorial depiction of chromosomal inversions.
A description and pictorial description of missing chrosomonal isochromes.
- Jablonski's description of 8p deletion syndrome
An entry for the chromosome 8p deletion syndrome into the Congenital Syndromes Database. This entry includes information on the major features, historical references, and a bibliography.
- Jewish Virtual Library
The Jewish Virtual Library is the most comprehensive online Jewish encyclopedia in the world, covering everything from anti-Semitism to Zionism. So far, more than 13,000 articles and 6,000 photographs and maps have been integrated into the site.
- Kaposi's sarcoma
Color image of Kaposi's sarcoma on the foot.
Morphological evaluation of chromosomes is done by creating a picture, called a karyotype, of the chromosomes in a single cell. A karyotype can be created from a variety of samples, including blood, bone marrow, amniotic fluid, or placental tissue. Each sample is cultured in the laboratory; when ready, the cells are harvested. The chromosomes they contain are then stained, viewed under a microscope, and arranged into 23 pairs.
- Kidney Cancer
This webpage provides comprehensive information on kidney cancer for both patients and health care professionals. It includes information on prevalence, prevention, screening, treatment, clinical trials, and relevant literature.
- Life Span Institute
The Schiefelbusch Institute for Life Span Studies (LSI) was created in 1990 out of the 67-year-old Kansas Bureau of Child Research. Today it is one of the largest and most highly regarded human development and disabilities research centers in the country. The LSI brings together scientists of diverse disciplines including gerontololgy, psychology, psychiatry, speech pathology, sociology, education, biology, pharmacology, physiology and medicine to study human development from its genetic origins through the final stages of life.
- Maria's Aunt's History
A pedigree image of for reviewing Maria's family history.
- Maria's Final Pedigree
- Maria's Husband's Family History
An image of Maria's husband's family history.
- Maria's Mother's Family History
Click on the pedigree image to review the family history on Maria's mother's side as it currently stands and to compare it to your own version before proceeding.
- Maria's Pedigree
A pedigree image to review the family history as it currently stands.
- Medical Family History Red Flags
A list of family history red flags
- Medical history: Compiling your medical family tree
This Web page, from the Mayo Clinic, provides guidance for patients about what to include in a family history, basic pedigree construction (not consistent with Bennett et al., 1995), limitations of the family history, and how to approach family members. It also includes a very basic form with columns for "blood relative" and "health conditions."
- Medical Research and Autism (Clinical Trials with Autism)
Clinical trials for the research of Autism.
Image of a melanoma lesion
- Mental Retardation
A list of probing questions for positive histories of mental retardation.
- My Family Health Portrait
This program, from the US Surgeon General's Family History Initiative, enables people to answer a series of questions about the number, relationship, and medical histories of their family members. This information is then used to generate a pedigree that the patient can bring to his or her physician for review. The program is relatively simplistic (does not distinguish half siblings from full siblings, includes a limited number of relatives, no risk assessment, etc.), but the Surgeon General's office plans to continue developing the tool. It is simple for the patient to complete, requires only about 10 to 15 minutes (if all of the health information is readily available), and the information is kept on one's own computer, minimizing security concerns.
- Myriad Genetics Laboratory
Myriad Genetics Laboratory performs a blood test that can let you know your risk for hereditary breast and ovarian cancer
- Myriad Introduces Enhanced BRACAnalysis Test for Exceptionally High-Risk Breast Cancer Patients
This added test detects rare, large rearrangements of the DNA in the BRCA1 and BRCA2 genes and will be performed for women with exceptionally high risk who have tested negative for sequence mutations and the common large rearrangements already included in Myriad's test.
- National Cancer Institute
National Cancer Institute provides various information. For the general public, patients, and health professionals, they offer consumer-oriented information on a wide range of topics as well as comprehensive descriptions of their research programs and clinical trials. Scientists will find detailed information on specific areas of research interest and funding opportunities. (From Their Website)
- National Guideline Clearinghouse
National Guideline Clearinghouse is a public resource for evidence-based clinical practice guidelines. Users may start a search by typing keywords into the search box, or using the NGC Browse or Detailed Search features.
- National Human Genome Research Institute
This website contains information about the Human Genome Project and also provides free online educational materials.
- National Newborn Screening and Genetics Resource Center (NNSGRC)
This website provides information for both families and health care professionals on newborn screening and genetics.
- National Newborn Screening Status Report
This document lists the screening tests performed on newborns by state and notes whether they are required by law or not.
- National Organization for Rare Disorders
The National Organization for Rare Disorders (NORD) is a unique federation of individuals and organizations working together to build a better world for people affected by rare diseases (From their Website). This organization maintains a database of consumer friendly reports for over 1,100 rare diseases (many of which have at least a genetic component). The site also has a searchable index of support and advocacy organizations.
- National Society of Genetic Counselors
The National Society of Genetic Counselors is the professional membership association for the genetic counseling profession.
- NBDPN Guidelines for Conducting Birth Defects Suveillance
NBDPN Guidelines for Conducting Birth Defects Surveillance
- NCI Genetics of Breast and Ovarian Cancer (PDQ)
This PDQ cancer information summary for health professionals provides comprehensive, peer-reviewed, evidence-based information about the genetics of breast and ovarian cancer.
- NHGRI: Chromosome Abnormalities
Chromosome Abnormalities informational page from NHGRI
- NINDS Autism Information Page
NINDS Autism Information Page
- NORD description of 8p-
Discussess 8p- and provides links to organizations related to Chromosome 8, Monosomy 8p.
- Online Mendelian Inheritance In Man (OMIM)
OMIM is a comprehensive, authoritative, and timely compendium of human genes and genetic phenotypes. The full-text, referenced overviews in OMIM contain information on all known mendelian disorders and over 12,000 genes. OMIM focuses on the relationship between phenotype and genotype. It is updated daily, and the entries contain copious links to other genetics resources. OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions (From their Website).
- Online Mendelian Inheritance in Man (OMIM) BRCA2
A journal article about the BRCA 2 Gene. The article details cloning, gene structure, mapping, gene function, role in DNA repair, and molecular genetics.
- Overview of the Privacy Act of 1974
The "Overview of the Privacy Act of 1974," prepared by the Department of Justice's Office of Privacy and Civil Liberties (OPCL), is a discussion of the Privacy Act's disclosure prohibition, its access and amendment provisions, and its agency recordkeeping requirements. Tracking the provisions of the Act itself, the Overview provides reference to, and legal analysis of, court decisions interpreting the Act's provisions.
- Pedigree Clues
- Pedigree Clues - list
A list of pedigree clues for autosomal dominant, x-linked recessive, mitochondrial, autosomal recessive, x-linked dominant, and chromosomal traits.
- Pedigree Key
Key to symbols used in pedigree charts.
- Pedigree symbols
- Polymerase Chain Reaction
A sample of amniotic fluid yields a small amount of cells and, therefore, DNA. Often when performing genetic testing on amniotic fluid, the first step is to use a technique known as polymerase chain reaction (or PCR) to make many copies of the region of DNA that is of interest, since there are too few to study in the original amniotic fluid sample. This process is called amplification and can be done on DNA extracted from any tissue type. In the case of sickle cell anemia, the beta-globin gene is amplified.
- Preconception / prenatal family history questionnaire
This is a comprehensive, paper-based screening form from the March of Dimes that includes past medical history, exposures history, reproductive history, and extended family history for a lengthy list of potentially inherited conditions, as well as a place for office notes regarding significant findings and plans.
- Prevalence of Genetic Conditions/Birth Defects
Provides data on the prevalence of birth defects and various genetic conditions. Additionally, it includes information on international prevalence and includes resources on the lifetime cost of care for certain conditions.
- Principles of Medical Ethics
The code of medical ethics, from the American Medical Association, discusses opinions on 9 main topics, including social policy, inter professional relationships, hospital relations, fees, physician records, and professional rights and responsibilities.
- Promoting Safe and Effective Genetic Testing in the US
This is the final genetic testing report of the Task Force on Genetic Testing; the Task Force highlights principles and provides recommendations regarding genetic testing. The report includes chapters on: Ensuring the Safety and Effectiveness of New Genetic Tests, Ensuring the Quality of Laboratories Performing Genetic Tests, Improving Providers' Understanding of Genetic Testing, and Genetic Testing for Rare Inherited Disorders.
- Protein Separation
Proteins, the products of genes, vary from one another by shape, size, charge, molecular affinity, and other characteristics. Proteins made from different genes usually differ from each other in significant ways. However, proteins made by the same gene may also exhibit different characteristics. These differences can be the result of the presence of a genetic mutation. Such differences can be used to identify the presence of normal and abnormal proteins.
- Protein Truncation Testing
For mutations that commonly cause shortened (truncated) protein products, protein truncation testing (PTT) can be very useful. In the lab, proteins are artificially synthesized from the gene in question. The protein products are then separated by size on a special gel. A smaller-than-normal protein on the gel indicates the presence of a truncating mutation.
- Pulmonary artery sarcoma
Black and white image of pulmonary artery sarcoma.
- Recommendations for standardized human pedigree nomenclature (Abstract)
Presents the recommendations of the Pedigree Standardization Task Force (PSTF) for standard human pedigree nomenclature and symbols. Full article is available.
- Recurrent Pregnancy Loss
Questions to ask when there is a family history of recurrent pregnancy loss.
- Report on Carcinogens (RoC)
This document provides information on substance that have the potential to cause cancer (carcinogens). A new version is released every two years.
- Restriction Enzyme Digestion
Restriction enzyme digestion describes the process used to cut, or digest, large pieces of DNA into smaller pieces. DNA is cut by combining it with a special type of enzyme, a restriction enzyme, which "recognizes" a unique DNA sequence. The mixture is then incubated under laboratory conditions to maximize digestion. During digestion, the enzyme locates places along the DNA with the unique sequence and cuts the DNA at that site.
- Southern Blotting
Southern blot analysis involves transferring DNA fragments embedded within a gel (after electrophoresis) onto a special membrane. Because the fragments transferred onto the membrane are too small to be seen, probes created to target a specific DNA sequence must be added. Probes are relatively short stretches of DNA that are tagged, often with fluorescence or radioactivity, allowing them to be visualized when bound to the DNA on the membrane. Probes will only bind or stick to the specific piece of DNA for which they are designed.
- Surgeon General's Family Health History Initiative
The Surgeon General's Family Health History Initiative is the national public health campaign to encourage all American families to learn more about their family health history. Moreover, it helps focus attention on the importance of family history since certain health conditions can be inherited and provides a "computerized tool to help make it fun and easy for anyone to create a sophisticated portrait of their family's health."
- The 5 Elements of Informed Consent
The 5 Elements of Informed Consent
- The Arc
The Arc is the world’s largest community based organization of and for people with intellectual and developmental disabilities. It provides an array of services and support for families and individuals and includes over 140,000 members affiliated through more than 730 state and local chapters across the nation. The Arc is devoted to promoting and improving supports and services for all people with intellectual and developmental disabilities.
- The Autism Information Center
Autism spectrum disorders (ASDs) are a group of developmental disabilities defined by significant impairments in social interaction and communication and the presence of unusual behaviors and interests. Many people with ASDs also have unusual ways of learning, paying attention, or reacting to different sensations. The thinking and learning abilities of people with ASDs can vary – from gifted to severely challenged. ASD begins before the age of 3 and lasts throughout a person's life. It occurs in all racial, ethnic, and socioeconomic groups and is four times more likely to occur in boys than girls. (From Their Website)
- The Cell Cycle & Mitosis Tutorial
This page explains each step of mitosis in detail and includes an illustration of each. There is also a video displaying mitosis.
- The Family History Public Health Initiative
A gateway to information and resources from the CDC for public health professionals about the potential for using family history as a tool for improving health and preventing or delaying the onset of common, chronic diseases.
- The Genetic Information Nondiscrimination Act of 2008
A fact sheet on the Genetic The Genetic Information Nondiscrimination Act of 2008, intended for general informational purposes only, provides an explanation of the statute to assist those involved in clinical research to understand the law and its prohibitions related to discrimination in health coverage and employment based on genetic information. The information should not be considered legal advice. In addition, some of the provisions discussed involve issues for which the rules have not yet been finalized, and this information is subject to revision based on publication of regulations.
- The Health Insurance Portability and Accountability Act of 1996
The website for the The Health Insurance Portability and Accountability Act of 1996 contains a section for understanding the HIPAA privacy act, statute and rules, how to file a complaint, a news archive, and an FAQ section.
- The ICN Code of Ethics for Nurses
The ICN Code of Ethics for Nurses, most recently revised in 2006, is a guide for action based on social values and needs.The Code has served as the standard for nurses worldwide since it was first adopted in 1953.
- The Skin Cancer Foundation
The Skin Cancer Foundation website provides comprehensive information for patients and health care professionals on all types of skin cancer.
A description and pictorial representation of chormosomal translocations.
- Turner Syndrome
A description of Turner Syndrome.
- Twin Concordance and Heritability
For more information about calculating heritability from twin concordance studies review this resource.
- What you can do to be a better risk communicator (Adapted from Gates, 2004)
Effectively communicating statistical information about risks and benefits is not specific to the field of medical genetics. Instead, it is a common challenge in all areas of medicine. This resource explains specific steps to make this process easier.
- World Atlas of Birth Defects
World Atlas of Birth Defects
- Your Family History - Your Future
From the National Society of Genetic Counselors, this Web page contains good general information for patients about what demographic and medical information to include in a medical family history, as well as basic instruction on how to assemble this information in pedigree form. The instructions are also available in a print-friendly PDF format that could be provided to patients.