Adpkd Ethical Dilemma

Shadowing Dr Anderson allowed me to encounter the day to day problems faced by a physician. I've learned about genetic disorders and their symptoms, but I got to see how diagnosis is rarely that clear cut. Most of the patients presented with developmental delay, a symptom common to many genetic disorder. Variable expressivity and penetrance further complicates differential diagnosis. Genetic testing is required for confirmation, yet almost never covered by insurance. Out of pocket costs can be too expensive for many families to afford. Without a confirmed diagnosis, it's difficult for families to get the needed support from insurance and the government. Dr Anderson tried to avoid going through insurance by enrolling her patients in clinical

He proposed they contact the Lacks children to request samples from them so they could compare their DNA to the HeLa cells. When asked if informed consent had been given, McKusick replied, “I suspect there was no effort to explain anything in great detail. But I don’t believe anyone would have told them we were testing for cancer because that wasn’t the case” (183). Nevertheless, this is what the Lacks believed for years, causing Deborah to panic as she had long feared developing the same cancer that had killed her

Genetics has become a very important topic of discussion in the healthcare field. There are more and more diseases being linked to certain genes in the DNA. Carrier: Untangling the danger in my DNA, by Bonnie J. Rough, is one example of the modern problems people have to deal with in regards to genetics and genetic testing. The author writes about the problems she faced. She had some very difficult decisions about her possible offspring as well as herself. Rough writes about her struggle with deciding if she should get a genetic test for a gene that causes a disease that has been passed on through her families for generations. The reader also learns about her and her husband’s experience of getting pregnant and the steps they took to try

Introduction: Polycystic kidney disease is a genetic disorder, which means that it is inherited from the parent and passed on to further generations. It causes uncontrollable cyst growth within the kidneys, that eventually can lead to kidney failure and the need of a kidney transplant. Five percent of kidney failure is due to this disease alone, (PKD Foundation). Not only can it affect the kidney, but many other organs, and cause a lot of painful symptoms, which will be discussed later in the paper. There are two types of polycystic kidney disease (PKD), one is called Autosomal Dominant Polycystic Kidney Disease (ADPKD), and the other is called Autosomal Recessive Polycystic Kidney Disease (ARPKD).

ADPKD is a genetically heterogenous disease with mutations in either PKD1 or PKD2 gene. PKD1 gene is located at chromosome 16p13.3 and PKD2 gene localizes to 4q21-22. In Western population about 85% have mutations in PKD1 gene and rest 15% has PKD2 mutations (23-25% in some populations). Patients with mutation in PKD1 gene have more severe phenotype and an early onset disease than those linked to PKD2. Though most of the ADPKD patients have positive family history, about 10% have de-novo mutations. Asymptomatic at-risk family members have 50% chance of inheriting the disease. Previously reported studies have suggested a possibility of a third locus in families that did not relate to mutations in PKD1 or PKD2 gene. However

There are two main ways genetic testing places a constraint on a child’s right to an open future. The first of these is that the revelation of a child’s disease status can change his life narrative and the way parents and others treat him, and substantially alter his or her life’s trajectory (Davis _____). Parents may feel guilty or shelter their not-yet-sick

This will also help exclude bilateral obstructions in high risk patients. Sonography has the ability to use Doppler, which aids in assessing renal perfusion. This procedure is non-invasive, does not use radiation, or contrast. There is less long term effects that may affect the patient later on down the road. The technologists have the ability to see blood flow of the kidney. This imaging modality has the capability of detecting cysts, obstructions, fluid collection by using sound waves. With many patients having allergies to contrast, having claustrophobia by being in a MRI or possibly a CT, this modality allows the patient to be comfortable without any fears. There are some factors which can affect the diagnosis such as obesity, barium in the intestines from a previous barium study, and intestinal gas (Hopkins medicine.org, 2018). Sonography seems to be the best way to go when it comes to diagnosing a patient with renal failure. The ability to determine fluid, abscesses, shape, location, and size of organs seems to best way to help protecting patients from radiation damage and contrast allergies. Kidneys are an important part of life, it is imperative we do what is needed to make sure they are functioning to keep us

Through this diagnostic phase the family was faced with the unknowing and the constant wonderment of why their son was not completing his milestones. Also, I believe Emily, the mom, felt a sense of guilt for not knowing that standard prenatal screening she was given was

Mutation PKD1 is located on chromosome 16 specifically 16p13.3 and mutation PKD2 is located on chromosome 4 in the vicinity of 4q21-23 (Grantham, 2008). In addition, the PKD1 is very large compared to PKD2, it encodes for a 14.1-kb mRNA transcript that is translated into a protein composed of 4302 amino acids (Igarashi, 2002), whereas PKD2 encodes a 5.3-kb mRNA transcript that is translated into a 968 amino acid protein (Igarashi, 2002). ADPKD follows a dominant inheritance. This means that if either the mother or father has ADPKD, the offspring will have a 50% chance of inheriting ADPKD (Grantham, 2008). If the gene for ADPKD is not passed on, the offspring will neither inherit the disease, nor be able to pass on the disease to future offspring (Grantham, 2008). Ways to develop ARPKD require each parent to be a carrier of at least one defective copy of the disease gene; in this case, there is a 25% chance of having the disease. If only one parent carries the defective gene, the offspring will not inherit the disease (Igarashi, 2002). In Mary’s case, the pedigree resembles an Autosomal Dominant PKD pattern, due to the high frequency of complications

Diagnostic exams for PKD are commonly kidney imaging studies, including ultrasounds, CT scans, and magnetic resonance imaging (NKUDIC). According to the NKUDIC, “diagnosis can also be made with a genetic test that detects mutations in the autosomal dominant genes.” Autosomal recessive PDK is diagnosed using ultrasound images of the fetus or newborn, revealing enlarged kidneys or kidneys with an abnormal appearance. It has also been found that higher serum uric acid levels are associated with Polycystic Kidney Disease, according to

This is just my opinion on what I would do about the issues relating genetic testing with the American Society of Human Genetics. If you have an immediate family member with a genetic disease or condition, you should have a blood screening test ran to possibly save you from getting the same

A genetic disorder is a genetic problem caused by one or more abnormalities in the genome. One of the most common genetic disorders is polycystic kidney disease. Polycystic kidney disease (also termed PKD) causes many cysts to grow on the kidney. The cysts can be very damaging if they become too large in size. About 600,000 people have PKD in the United States. Found in all races equally in both men and women, PKD is the fourth leading cause in kidney failure.

Genetic testing has brought about many changes in the way many couples look at conceiving and raising families. Through genetic testing you are able to screen for the increased chance that a fetus may have one of many congenital disorders, or even identify gene changes that are responsible for a disease that has already been diagnosed (Genetic Testing, March 2015). Unfortunately genetic testing is not always exact, in some cases giving parents false negatives or false positive results. Even if the results are accurate, there is the burden of knowledge once you know the results indicate a genetic abnormality such as Down’s syndrome. While caring for a 2 year old male patient with developmental delays and anotia, I learned that genetic testing had been started but never completed on the child. Genetic testing could help to identify genetic disorders that led to the child’s developmental delays and possible future disorders that may develop. The ethical dilemma I will be discussing to the ANA Ethical dilemma of the impact of informed consent of genetic testing on children for adult onset diseases and disorders.

One of the most captivating chapters throughout her book, Genetic Dilemmas, is her argument against childhood testing for late-onset genetic diseases. She also discussed how parental knowledge of the results violates the child’s right to an open future and can strain the relationship between parent and child. Yet, Dena Davis has been criticized for these claims in many publications, including a popular article by Mary Ann Sevick. In this paper, I will argue that children should not be forced to know their fate and show that the critics are not looking at the bigger picture.

Autosomal recessive polycystic kidney disease (ARPKD). ARPKD is not more common than ADPKD. symptoms are shown very early in a child affected with ARPKD. Appearance of signs and symptoms until later in childhood or during adolescence is seen in rare