health professionals/legal

Ensuring that the influence of a person’s genetic history on health and disease is considered as part of general assessment information for all patients and families, Health-care professionals must not overlook genetic issues

genomic care

Extensive education and, often, special credentialing in some aspect of genetics

genetic professionals

Presents all facts and options in a way that neither promotes nor excludes any decision or action (within legal boundaries), Balanced information without personal opinions

non directive counseling

A genetics professional who: Has a master’s degree in genetic counseling from a graduate program accredited by the American Board of Genetic Counselors, Has passed a certification exam

certified genetic counselor

Scope of practice: Providing expertise in genetics, Communicating/counseling patients and families at genetic risk, Ensuring that counseling services are delivered in a manner that is consistent with professional ethics and values, Not a medical doctor

genetic counselor

Physician who: Graduated from an accredited school/college of medicine, Successfully completed a medical board examination, Is eligible for licensure and can become a clinical geneticist, Completed clinical specialty residency, Completed a clinical genetics fellowship, Sees patients with a wide variety of genetic disorders: Diagnosis, Clinical management, Counseling, May be certified in cytogenetics, molecular genetics, or biochemical genetics, lead management of inherited disorders

clinical geneticist

MD, DO, or PhD-prepared scientist (or both), 24-month fellowship in a program approved by the American Board of Medical Genetics, Certification exam in one of three subspecialties: Cytogenetics, Molecular genetics, Biochemical genetics, Works in laboratories, Certified to perform and interpret genetic tests important for diagnosing and managing genetic diseases, Develops and implements new tests, Provides quality assurance of routine tests, Detects and interprets chromosome abnormalities and communicates results to health-care and other genetic professionals

clinical laboratory geneticist

Not a physician, Has a doctorate (PhD), most commonly in population genetics or epidemiology, Works with genetic counselors to provide accurate recurrence-risk information, Often teaches in academic institutions

medical geneticist

medical/family history, facilitates decision making, communication of results, quantification of chance of recurrence, support and guidance

genetic counselor

physical examination, differential diagnosis, determination of indication for genetic testing, medical management and therapy

medical geneticist

guidance on the most appropriate testing method, execution of genetic testing and reporting, interprets diagnostic findings

laboratory geneticist

Has a doctorate (PhD) in genetics or relevant biological science and completed postdoctoral laboratory training in genetics, May work with a clinical geneticist or a certified genetic counselor to provide the scientific details associated with a specific disorder, focus on mechanisms and experimental therapies

research geneticist

Master’s degree in nursing from an accredited program that includes 50 hours of genetic content, 300 hours of supervised genetic practicum experience, with > 50% practice component, Evidence of effective teaching, Certification through a professional portfolio (certification currently not available) - APNG, Facilitate genetic testing and interpret laboratory reports

advanced practice nurse in genetics

Certification through a professional portfolio (certification currently not available), Licensed RN with BSN from an accredited program, Logs of 50 cases and 4 case studies reflecting the standards of clinical genetics nursing, 45 contact hours of genetic content from academic coursework or continuing education - GNC

genetics clinical nurse

Verify information to bring a genetic problem to light, Look for cues that signal genetic problems, Provide accurate information, Coordinate care to ensure appropriate referral to genetic professional, Serve as a patient advocate, Maintain confidentiality, Ensure patient understands the purpose, risks, and possible results of genetic testing - a regular nurse

generalist nurse in genomic care

for clinical genetics: Respect patient autonomy, Provide nondirective and supportive counseling, Assist families in making an informed decision

ethical goals

Reasons for not having genetic testing: Fear of losing health insurance, Fear of paying higher premiums, Fear of losing employment

genetic discrimination

Human Genome Project received funding  to study—- (ELSI),Largest bioethics program in the world - Financial issues also important: “FELSI

ethical, legal, and social issues

Improving humankind by selectively breeding people who have “good” genes and not allowing reproduction of people with “bad” genes, Between the years of 1910 and 1940, U.S. and U.K. movements, Sterilization of “socially inadequate” people

eugenics

controversial because: “Designer babies” What happens to “defective” embryos?, Impact on people living with disability, What is the value of their lives?, Is this a form of genetic discrimination?

preimplantation genetic diagnosis

IVF/CSI manipulation, cultivation of the received embryos up to five days, embryo biopsy - trophectoderm cell collection, embryo freezing for later use, preimplantation screening, selection of genetically competent embryos for transfer, implantation

preimplantation genetic diagnosis

part of history of genetic discrimination: Tested employees for genetic predisposition to hereditary neuropathy with liability to pressure palsies (HNLPP), without consent, Genetic risk for carpal tunnel syndrome, Lawsuit filed by Equal Opportunity Employment Commission (EEOC) - 2001

Burlington Northern Santa Fe Railroad

Signed into law on May 21, 2008, Federal protection against genetic discrimination in employment and insurance, *Life insurance and long-term care insurance is not protected under this law (•prohibits insurers from using genetic information to adjust premiums or coverage) - stands for genetic information and nondiscrimination act

GINA

says: Cannot use genetic information to make decisions about eligibility, the size of premiums, or the extent of coverage, Cannot use genetic information as evidence of a preexisting condition, Cannot require that a client have genetic testing

GINA health insurance protection title I

says: Illegal for employers to use genetic information to make decisions about: Hiring, Promotions, Termination of employment

GINA employment protection title II

Results of one’s own genetic tests and those of family members, Any clinical signs of a disease in a family member, Whether an individual or his or her family members have requested genetic services

protected genetic information

Physician was sued for not warning patient’s daughter of her genetic risk for thyroid cancer, Daughter diagnosed with advanced thyroid cancer 3 years after mother, Claimed she would have had early diagnosis if she knew of her risk, Court agreed daughter should have been warned - Physician duty: tell patient to warn her daughter, Florida case

pate vs threlkel

30 years after her father died, woman sued the estate of her father’s physician for failing to warn her of risk for familial adenomatous polyposis, Telling the patient to tell family is not enough, Court determined: Must take “reasonable steps” to assure that risk is communicated - New Jersey

safer vs estate of pack

Physician should have performed a diagnostic genetic test on a child with cognitive impairment to see if that child had a genetic condition, Two children with fragile X, second child born with more severe disability, First child should have been tested, ruled that a pediatrician’s duty of care regarding genetic testing and diagnosis extends beyond the direct pediatric patient to the child's biological parents, who foreseeably rely on that information for family-planning decisions - Minnesota

Molloy vs meier

says: When is it acceptable to disclose private health information: Very likely that harm will result if the information is not disclosed, Harm from not disclosing the information would be greater than the harm of disclosing the information

institute of medicine and U.S. presidential commission

Scientists should be able to protect their intellectual property, Government permits people to patent the output of their creative work - Must be new and useful, U.S. Patent and Trademark Office has agreed to patent isolated sequences of the human genome - Could limit access, increase cost of genetic testing, and raise ethical concerns

intellectual property rights and gene patents

Myriad Genetics, American Civil Liberties Union (ACLU) filed the lawsuit, 2013 U.S. Supreme Court decision - No one can patent isolated pieces of DNA in their natural, unmodified form, Modified segments of DNA can be patented

gene patenting case

Provider inserts a modified gene to treat or prevent disease, Insert a normal gene to replace a disease-causing mutation, “Turn off” a gene that isn’t working correctly, Add a gene to improve disease resistance

gene therapy