ch 3 genetic & genomic influences

Categories of genetic tests

-categorized based on their intended use or purpose and the approach or methodology they utilize. - may analyze DNA, products of DNA, or other substances that indicate a genetic defect. -Newborn screening, diagnostic testing, prenatal testing, preimplantation testing, carrier testing, presymptomatic & predictive testing

nursing activities that reflect genetic and genomic competencies

• Identifying risk for disease by collecting a family history and drawing a three-generation pedigree • Helping individuals and families to understand the implications and limitations of genetic testing • Administering gene-based therapies • Providing nondirective counseling to assist families who have questions or concerns about their reproductive risks • Recognizing signs and symptoms, such as dysmorphic features or hypotonia, that may indicate a genetic condition in a newborn • Anticipating variable responses among individuals to "standard" medication doses, due to pharmacogenetic effects • Ensuring the delivery of genetically competent care for the child and family • Helping individuals and families identify credible sources of genetic information • Applying concepts of health promotion and health maintenance to assist children and families who are at increased risk to develop common chronic conditions • Partnering with families affected by genetic conditions, including providing advocacy, supporting the child's and family's decisions, teaching, facilitating appropriate referrals, clarifying information, and providing further information about available resources and services • Partnering with the community to educate the public about genetics • Supporting legislation to protect genetic information and to protect those with genetic conditions from discrimination • Applying knowledge of the ethical, legal, and social implications of genetic information

managing care through advocacy

-continually advocate for the child and family and support their decisions even if the decisions contradict the nurse's own ideals and morals. - careful self-assessment of feelings is essential for nurses to recognize when their own attitudes and values may affect care

Planning & implementation - genetics

- (1) integrate genetic and genomic concepts into a comprehensive nursing assessment including documenting that history in the form of a pedigree (2) recognize significant genomic information in the family history (3) apply knowledge of local or regional services to explain available genetic services to patients (4) facilitate a genetic referral when appropriate

diagnosing chromosomal alterations

- Cytogenetics describes the microscopic examination of chromosomes to reveal large alterations - accomplished with a blood, skin, or buccal cell sample. -karyotyping & molecular cytogenetic techniques,

diagnostic procedures for genetics

- Genetic testing is available for both chromosomal and gene-based alterations - genetic testing is offered directly to consumers, who receive limited counseling about test results.

recommendations for genetic testing

- Genetic tests are useful to diagnose disease, predict risk of future disease, inform reproductive decision making, and manage patient care.

ensuring confidentiality and privacy for genetic testing

- The technology that has made genetic testing pos-sible has far outpaced the ability of health policy makers and legislators to put in place systems to protect genetic information. -Not only should nurses be diligent about protecting patients' genetic information but they should also discuss with patients and families the potential implications when sensitive test results are shared, either intentionally or inadvertently.

Newborn screening

- identify babies at risk for a condition that may require immediate initiation of treatment to prevent death or disability

4 reasons to consider genetic testing in minors

- if the testing offers an immediate medical benefit for the child in terms of disease prevention or early treatment - newborn screening, predictive screening, diagnostics -second kind of situation occurs when an adolescent is facing a reproductive decision of his or her own. If the adolescent has a family history of a genetic condition, the individual might be interested in genetic testing such as carrier screening that offers no specific medical benefit to the adolescent other than family planning. -third situation occurs when a parent or child requests predictive genetic testing for future planning in the absence of any immediate benefit. This situation may arise with inherited adult-onset disorders - a family member may request genetic testing for a child when the test results are entirely for the benefit of another family member, with no direct benefit to the child.

genetic issues of minors

- pediatric nurse must have knowledge of issues related to genetic testing of minor children. -Parents may request genetic testing for their minor children - The primary focus of genetic testing in children is to promote the child's well-being, and guidelines generally recommend that genetic testing in children only be conducted if the results would affect medical management soon after testing. - advances in genomic knowledge and increasing availability of genomic testing have blurred the issues around testing in minors. - Does knowledge of that genetic test have immediate medical benefit for the child? Does the potential benefit outweigh any harm that may accompany the knowledge? -Communication with the child and family about genetic testing should include an assessment of the positive and negative outcomes of the test.

family preparation for genetic referrals & genetic counseling

- pediatric nurse should educate the child and family so they know what to expect during and after a genetic evaluation. -the parents will be contacted to provide a detailed medical and family history and to make an appointment for genetic consultation. -the parent should be prepared to give as exact a family history as possible so that a detailed three-generation pedigree can be constructed. -During the appointment, a genetic clinical nurse, genetic counselor, and/or physician will perform an initial interview with the parents and their child. -A geneticist will examine the child and possibly the parent(s) in order to establish an accurate diagnosis. -After the exam and the completion of any applicable testing, the geneticist or genetic counselor will discuss the findings with the parents and/or child and make recommendations. -The discussion will include the natural history of the condition, its pattern of inheritance, current preventive or treatment options, and risks to the child or family. -as visit concludes, child and parents can expect that appropriate referrals will be made, available services will be discussed, and a follow-up visit may be scheduled - Genetic healthcare providers present the individual and the family with information to promote informed decisions. They are also sensitive to the importance of protecting the individual's autonomy.

role of nurse in genetic testing

- teaching parents and children about the implications and limitations of genetic tests to ensure that they make informed decisions. -The nurse should promote communication, autonomy, and privacy when helping families. -use a family perspective when assisting parents and children who are making decisions about genetic testing. -avoid imposing their own values or personal opinions onto patients and families.

Genetic referrals & counseling

-After gathering assessment data that incorporate genetic concepts, the pediatric nurse is able to partner with children and their families by initiating a referral to genetic specialists if there are indicators for a genetic referral - provide the family with information about the advan-tages of a referral to a genetic specialist and the disadvantages of not following through with the referral. -The nurse should inform the child and family that a genetic referral can provide information and answer questions they may have concerning genetic health.

ensuring informed consent for genetic testing

-All genetic testing should be voluntary, and it is the nurse's responsibility to ensure that the consent process includes discussion of the risks and benefits of the test, including potential physical or psychological harm or societal injury due to stigmatization or discrimination. - nurses must ensure patients fully understand both the process of the testing and potential implications -incidental findings should be explained during the consent process. - health insurance policies may not cover genetic testing

Genetic physical assessment - major & minor anomalies

-Dysmorphology refers to the study of human congenital defects or abnormalities of body structure that begin before birth. -occur anywhere in the body, but are perhaps most often associated with facial features -Nurses may even ask to look at family photographs and examine them for common dysmorphic features and family traits. - nurse can identify clues to genetic problems by examining the child and considering the physical characteristics of the parents and other family members -nurse who notes multiple minor anomalies in a newborn or child should consider the possibility of a major anomaly or an under-lying genetic condition and advocate for a genetic referral. -syndrome & sequences

visions for the future

-Genetic and genomic competency among nurses is essential, not only to provide direct care but also to function as informed members of the community and greater society. -As advances in genome science are increasingly translated to health care, the role of nurses not only remains vital but also increases in breadth. - Precision medicine will target care, including health promotion and disease prevention plans, pharmacotherapeutics, and cancer treatment, based on each person's unique genome. -Genome-based care is anticipated to expand genetic testing and include new interventions such as gene therapy. -As genomic health care becomes the standard of care, the nurse's role expands not only to delivering that care, but also to explaining the care and the implications of care to clients and families.

indications for pediatric referral to genetic specialist

-If the child or family reports a known or "believed" genetic condition in the family • Single major or multiple minor congenital anomalies • Dysmorphic features that are not familial • Developmental delay or regression • A known or suspected metabolic disorder • Speech problems • Learning disability • Failure to thrive • Delays in physical growth, unusual body proportions, or low muscle tone • Abnormal or delayed development of secondary sex characteristics or sex organs - • Extremely short or tall stature • Blindness or cataracts in infants or children • Deafness • Hypotonia in an infant or child • Seizures in newborns or infants • Skin lesions such as café au lait spots

Major anomalies

-a serious structural defect present at birth that may have severe medical or cosmetic consequences, interfere with normal functioning of body systems, lead to a lifelong disability, or even cause an early death. - Congenital heart defects, cleft lip and/or palate, myelomeningocele, duodenal atresia, and craniosynostosis

Minor anomalies

-also malformation; an unusual morphologic feature that in itself is of no serious medical or cosmetic concern to the individual or family. -traits as wide-set eyes, single palmar creases, café au lait patches, low anterior hairline, preau-ricular (in front of the ears) pits and tags, broad face, or mild proportionate short stature

psychosocial issues - genetic testing

-Pediatric nurses must be prepared to assist children and families to manage anxiety related to genetic testing. -Uncertainty and stress associated with making a decision to undertake genetic testing may extend into weeks or even months before results are available. - concerns about carrier status may interfere with development of intimacy and interpersonal relationships. -A positive test result may lead to feelings of unworthiness or disturbed self-image. - adolescent carrying a gene alteration for a late-onset disease may have an increased tendency for risky behaviors. -The adolescent who has inherited an altered disease-producing gene may foster resentment toward the parent who carries the altered gene. -Parental guilt may exist for passing the altered gene to the child. -parent-child bonds may be altered if parents become either overprotective or overly permissive. -The parent and other family members may unconsciously form lowered expectations for the child or adolescent

family teaching

-The pediatric nurse must be aware of available genetic resources and participate in education about genetic disorders and health promotion and prevention. -Informing children and their families of what to expect from a genetic referral and clarifying and reinforcing information obtained during a genetic referral or genetic test results are also important. -Cultural and religious beliefs and values of the individual and family must be assessed by the nurse prior to teaching. Gene alterations may be viewed as uncontrollable, as occurring secondary to cultural beliefs such as a stranger looking at the infant, or as a "punishment." -nurse must be aware of common inheritance misconceptions; Helping families understand basic, relevant genetic concepts is fundamental to delivering competent genetic nursing care.

Impact of genetic advances on health promotion & health maintenance

-genomic era offers a promise of precision health care based on an individual's or a population's risk for disease -Health promotion and health maintenance teaching and nursing interventions would be targeted to individuals according to their disease risk. -Children and families may experience increased motivation to adhere to lifestyle choices and health screenings that are personalized according to their disease risk.

quality & accuracy of genetic tests

-greater concern is the interpretation of genetic test results. -Even if a test is accurate and reliable, companies are free to apply their own criteria to interpret the results -little or no education is provided for the individual undergoing testing, nor is counseling or follow-up uniformly provided. -accuracy and reliability, along with professional counseling, are essential

Basic principles of inheritance to risk assessment and teaching

-nearly all genes are paired -only one gene of each pair is transmitted from each parent to an offspring -one copy of each gene in the offspring comes from the mother and the other copy comes from the father.

Genetic family history

-nurse must look for genetic information that might indicate the need for referral to a genetic specialist. -Examples that would indicate a family may benefit from a genetic referral include a family history of conditions known or suspected to be genetic, several family members with the same condition, intellectual disability or learning difficulties, dysmorphic features or congenital anomalies, neonatal or pediatric death of unknown cause, recurrent miscarriage, or established genetic carrier status.

psychosocial care

-the nurse should identify the psychosocial needs and expectations of the child and family, as well as their cultural, spiritual, value, and belief systems. -Denial of a genetic diagnosis is common, and nurses must be aware of the family's state of acceptance. -Nurses must often help alleviate anxiety or guilt in the child or family. -reassure parents that the genetic condition is not the result of something they did or did not do during pregnancy. -The nurse should encourage open discussion and free expression of fears and concerns. -Guilt and shame are common as a family deals with the loss of the expectation and dream of a healthy child -Reinforce to parents that genetic alterations are caused by changes within a gene and not by superstitions related to sin or other cultural beliefs. - maintain awareness of the possibility of depression and be proactive in obtaining support for the individual or family. -nurse can refer the individual or family to a support group; however, it is important to have permission from the child or family before providing a support group with their names and contact information. - help families with the often difficult task of communicating genetic information such as inheritance patterns to extended family members. -Cultural values of autonomy and privacy come into play when a person considers whether to communicate genetic information to extended family members who may also carry the altered gene.

syndrome

collection of multiple anomalies, major or minor, that occur in a consistent pattern and have a common cause.

diagnosing gene alterations

DNA-based tests involve sophisticated new technology that permits the detection of DNA sequence changes as small as a single nucleotide -. These tests can be performed on blood, bone marrow, amniotic fluid, fibroblast cells of the skin, or buccal cells from the mouth. Genetic testing can examine DNA (to determine specific nucleotide sequence), RNA (to measure gene expression), or proteins (to analyze gene products). -not feasible to test for all alterations -microarray analysis can detect levels of messenger RNA in cells, which indicates which genes are "turned on" or actively being expressed. -Other genetic tests examine gene products or metabolites of gene products, rather than the makeup of the gene

preimplantation testing

Following in vitro fertilization (IVF), testing to identify embryos with a particular genetic condition

carrier testing

Testing in an asymptomatic individual to identify carrier status for a genetic condition

prenatal testing

Testing to identify a fetus with a genetic disease or condition.

diagnostic testing

Used to establish a diagnosis of a genetic disorder in an individual who is symptomatic or has had a positive screening test.

pedigrees

a chart that shows a trait in a family and how it is inherited -constructed around a designated "index" patient, called the proband (if the patient is affected with the genetic disorder of interest) or consultand (if the patient seeks genetic counseling without being known to have the disorder). - identifies affected individuals in the immediate and extended family and can identify family members who might benefit from a genetic consultation. -A pedigree can also illustrate patterns of inheritance and clusters of multifactorial condition - important to gather a three-generation family pedigree even if the nurse believes this is a first occasion of the condition within a family. -nurse must protect family confidentiality at all times. - Challenges inherent in recalling the family history include the parents' inability to remember conditions that have been surgically repaired and then forgotten.

sequence

collection of anomalies that occur as a chain of events initiated by a single problem. As an example, Potter sequence

presymptomatic testing

detects mutations that are likely or certain to eventually cause symptoms (an example is Huntington disease).

Predictive testing

detects mutations that increase the likelihood that symptoms will develop (such as BRCA1 and BRCA2 testing)

genome

entire DNA sequence of an individual

association

group of abnormalities of unknown cause that occur together more often than is expected by chance

Genetic diseases

inherited diseases caused by a defect in a single gene.

Genetics/Genomics Nursing: Scope and Standards of Practice

outlines the levels of genetic knowledge required of all registered nurses, including basic and advanced practice nurses in general practice as well as those who specialize in providing genetics services.

information to document in family history

• First name of all family members with age or year of birth • Any medical conditions or diseases, including age at diagnosis • Age and cause of death • Infertility or no children by choice • Pregnancy complications with gestational age indicated • Adoption status • Ancestry • Consanguinity