What are the implications of positive or negative results for the client?

Genetic Testing Assignment
With genetic testing, remember its important to think about:
1. When might this test be useful?
2. Are there problems with interpretation of this test? (eg. sensitivity, specificity, ambiguous results, etc.)
3. What are the implications of positive or negative results for the client? For other family members?
4. Could results reveal misattributed paternity?
5. Will other family members potentially have their health or risk status revealed if this individual is tested?
6. How will test results change the management of this individual, if at all? How will it change the management of family members, if at all?
7. What are the costs of this test? (include emotional burden, insurability, employability, and actual charges of the test, etc.)

ASSIGNMENT:
1. Go to the Biology Project web site’s Karyotyping Activity. http://www.biology.arizona.edu/human_bio/activities/karyotyping/karyotyping.html
Read the Introduction. There are 3 (A, B, C) patient histories that can be found by clicking on the Patient Histories box at the bottom of the web page.
You are to evaluate all 3 patient histories. For each patient history complete the karyotype and identify any missing or extra chromosomes.
Complete the “Interpreting the Karyotype” and “Making a Diagnosis” sections.
Do an Internet search and find one web site for each patient history that has information about each of the conditions that you identified.
Post your answers for all three case histories.
2. Pick ONE of the following Case Studies Listed Below [Here are some additional reading/resources]
A. Please use minimum 4 scholarly references no older than 2020
B. Please indicate which case study you pick
ASHG/ACMG report: “Points to Consider: Ethical, Legal, and Psychosocial Implications of Genetic Testing in Children and Adolescents” by The American Society of Human Genetics Board of Directors and The American College of Medical Genetics Board of Directors at the following website: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4570999/
Technical report: ethical and policy issues in genetic testing and screening of children https://pediatrics.aappublications.org/content/131/3/620
Case Studies {choose ONE} Write up your answers in a clear and concise manner.
Case 1
A 40-year-old woman reports that she has 3 first degree relatives with breast cancer. She wants to know her risk for developing breast cancer. What information does the nurse need to address her concern? What can this woman do to change her risk? What type of genetic testing is available? What type of information could a genetic test give this woman? Will the test tell her when she will get breast cancer? If so, how? If not, why?
Case 2
A woman comes in for a first prenatal appointment at 8 weeks. She and her ex-husband had a child who was diagnosed with Smith-Lemli-Opitz syndrome. That child died after 1 week in the newborn intensive care unit. The woman and her current husband want to know if testing is available. What types of testing would be available for this couple? What impact would testing have on the current pregnancy? What issues should the nurse discuss regarding other family members?
Case 3
A 3 y o nonverbal male (vocalizes vowels, not using consonants but communicating through gestures) arrives in the neurology clinic for evaluation of probable seizures. The preliminary workup has included chromosome analysis, serum amino acids, urine organic acids, acylcarnitine profile all of which have been normal. Hearing and vision evaluations in the past have also been normal. The clinician notes several minor anomalies (short upward slanting palpebral fissures, prominent nose, mild microcephaly). The parents are highly motivated and have been online and were told on a Blog site that they should consider microarray testing. The parents want very much to find a diagnosis and to find out recurrence risk for themselves and the child’s siblings. What is microarray testing? When is its use considered appropriate? If the child’s microarray testing comes back positive, will the parents receive information that is helpful for reproductive purposes? Why or why not.
Case 4
An expectant mother tells you she tends to lean towards not believing in the need to do newborn screening. Is it necessary to have the newborn tested? What options does the mother have to refuse newborn screening? What are the health care implications of not having newborn screening done? How good is the testing? How likely is it to diagnose a disease? If the newborn screen is done and the mother doesn’t want to follow up on an abnormal result what are her options? How does the mother’s refusal of newborn screening affect her child’s access to routine health care? What is the nurse’s role if the newborn is eventually diagnosed with one of the tested disorders and the mother refuses treatment?

Case 5
At a well child check-up, a 3 year old girl is found to have > 10 caf au lait spots and axillary freckling. No other symptoms are present. The parents are in good health. The pediatrician has just mentioned neurofibromatosis (NF) type 1, but has not made a definite diagnosis. After the pediatrician leaves the room, the mother states that her 5 year old has 3 caf au lait spots and wants to know if he might also be at risk. What type of evaluation is indicated to confirm the diagnosis in the 3 year old? Current molecular testing has 95% sensitivity. What steps are used to achieve this sensitivity? Will the results tell you how severe the disease will be? What is the most sensitive assessment for the 5 year old?
Case 6
Parents bring their 3 month old son to their pediatrician for his check-up. The infant was born 3 weeks early with a cleft palate. It was noted that he was slightly dysmorphic and was small for gestational age. He went home at 2 weeks of age gaining weight and feeding well with a cleft palate nurser. Prior to discharge a chromosome analysis and SNP array were done and were normal. The parents have read about whole genome sequencing (WGS) and whole exome sequencing (WES) and wonder if these testing strategies would identify what caused their sons problems. What are WGS & WES; are these tests clinically available; what are incidental findings and how do you deal with these?

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