The process of collecting a patient’s family history helps engage and educate them about the possibility of a hereditary condition in the family. Going through the process of risk assessment also gives breathing room to a patient as they decide on genetic testing, which can be complicated.
Genetic counseling: Introduction, definition, purposes of genetic counseling, indications of genetic counseling, beneficiaries of genetic counseling, phases of genetic counseling, role of nurse in genetic counseling, application of genetic counseling.
Genetic counseling: Introduction, definition, purposes of genetic counseling, indications of genetic counseling, beneficiaries of genetic counseling, phases of genetic counseling, role of nurse in genetic counseling, application of genetic counseling.
Counseling is a process of communicating between two or more persons who meet to solve a problem, resource a curse or take decision on various matters. It is not a one way process where in the counseling tells the client what to do nor it is a forum for presentation of the counselor’s values.
Genetic counseling process follows these basic characteristic of a counseling process. It is undertaken with families confronted with genetic and inherited disorders.
Trying to show some ethics about clinical genetics... There are many peoples in our society who believes about the natural process but they do not want to accept the works of the bio technologist and also about the mutational process. but as a bio technologist, we know that this process can be done by us in many ways. but general people do not want to accept our works..here are some ethics about the clinical genetics...
Rosemary Frasso's presentation from the
Penn Urban Doctoral Symposium
May 13, 2011
Co-sponsored with Penn’s Urban Studies program, this symposium celebrates the work of graduating urban-focused doctoral candidates. Graduates present and discuss their dissertation findings. Luncheon attended by the students, their families and their committees follows.
Counseling is a process of communicating between two or more persons who meet to solve a problem, resource a curse or take decision on various matters. It is not a one way process where in the counseling tells the client what to do nor it is a forum for presentation of the counselor’s values.
Genetic counseling process follows these basic characteristic of a counseling process. It is undertaken with families confronted with genetic and inherited disorders.
Trying to show some ethics about clinical genetics... There are many peoples in our society who believes about the natural process but they do not want to accept the works of the bio technologist and also about the mutational process. but as a bio technologist, we know that this process can be done by us in many ways. but general people do not want to accept our works..here are some ethics about the clinical genetics...
Rosemary Frasso's presentation from the
Penn Urban Doctoral Symposium
May 13, 2011
Co-sponsored with Penn’s Urban Studies program, this symposium celebrates the work of graduating urban-focused doctoral candidates. Graduates present and discuss their dissertation findings. Luncheon attended by the students, their families and their committees follows.
GENETIC TESTING: Introduction, definition, methods: molecular, chromosomal and biochemical, indications, types: preimplantation, forensic, newborn, carrier, prenatal, ethical, social and legal issues, interpretation of tests, risks and limitations, role of nurse
Answering your questions about genetics and your health | Genes in Lifejohndemello7
Genes in Life provides answer to your questions about genetics and health. It is the place where you learn the importance and effects of genetics on human life.
Visit http://genesinlife.org/ .
The leaflet aims at providing general objective information on genetic tests, including their nature and the potential implications of their results. It presents the different types of tests available, their applications in the medical field and the extent and limit of the significance of the information resulting from these tests.
More information - www.coe.int/bioethics
Put to the test as genetic screening gets cheaper and easier,.docxamrit47
Put to the test: as genetic screening gets cheaper and easier, it's raising questions that health-
care providers aren't prepared to answer
The American Prospect, November 2010
When my children were born in the mid-1990s, new parents could already see that prenatal genetic
testing was altering the terrain of pregnancy and childbirth. Growing numbers of educated women were
having children at older ages, with resulting difficulties and risks. More and more parents faced
challenging, deeply personal decisions about whether to engage in genetic testing and what to do if they
received unfavorable results.
I remember my own anxieties when my wife, Veronica, took a blood test that searched for elevated
alpha-fetoproteins, which are associated with diverse ailments ranging from spina bifida to
anencephaly. The mere prospect of these rare conditions--and even the choice to undergo the tests--
was surprisingly painful. At least genetic counselors and other professionals were available to help guide
us.
By that point, amniocentesis had been in wide use for more than two decades. As researchers identified
the genetic markers associated with a growing list of important conditions, educated, secular, and
affluent communities began to embrace genetic testing. A small but lucrative market in assisted
reproductive technologies quickly emerged, which provided parents with greater control over the
genetic characteristics of their offspring. In some parts of America, new diagnostic technologies
provoked unease regarding their eugenic potential.
In retrospect, these innovations were incredibly tame. Technological limits, cost, intrusiveness, and risk
constrained the scope of screening efforts. Roughly one in every 200 amniocenteses resulted in
miscarriage, which made the procedure too risky to justify screening the full population of pregnant
women. The human genome had yet to be sequenced. Newborn screening was routinely used to
identify a handful of important metabolic disorders, but it was a very expensive process. There was a
certain clarity, too. The most common use of amniocentesis was (and remains) to detect conditions
associated with very serious physical or intellectual disabilities. When such conditions were detected,
most parents chose to terminate the pregnancy.
Fast forward to 2010. Prospective parents can now be tested before pregnancy, and those found to be
carriers for serious conditions have the option of in-vitro fertilization, whereby embryos can be pre-
tested for genetic markers associated with Alzheimer's disease, hemophilia, muscular dystrophy, Tay-
Sachs disease, and more. Many of these same markers can also be detected by do-it-yourself genetic-
testing kits, which are beginning to appear on the Internet and on drugstore shelves. Walgreens may
soon sell a cheap home test that covers 37 genetic conditions. (Sales are postponed pending approval by
the Federal Drug Administration.) You will soon ...
Global Medical Cures™ | Genetic Testing Handbook
DISCLAIMER-
Global Medical Cures™ does not offer any medical advice, diagnosis, treatment or recommendations. Only your healthcare provider/physician can offer you information and recommendations for you to decide about your healthcare choices.
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Expanded carrier testing can look for an increased risk of dozens of recessive genetic conditions, depending on the specific test you take. GenomeSmart can help you decide whether expanded carrier screening is right for you.
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CHAPTER 1 SEMESTER V - ROLE OF PEADIATRIC NURSE.pdfSachin Sharma
Pediatric nurses play a vital role in the health and well-being of children. Their responsibilities are wide-ranging, and their objectives can be categorized into several key areas:
1. Direct Patient Care:
Objective: Provide comprehensive and compassionate care to infants, children, and adolescents in various healthcare settings (hospitals, clinics, etc.).
This includes tasks like:
Monitoring vital signs and physical condition.
Administering medications and treatments.
Performing procedures as directed by doctors.
Assisting with daily living activities (bathing, feeding).
Providing emotional support and pain management.
2. Health Promotion and Education:
Objective: Promote healthy behaviors and educate children, families, and communities about preventive healthcare.
This includes tasks like:
Administering vaccinations.
Providing education on nutrition, hygiene, and development.
Offering breastfeeding and childbirth support.
Counseling families on safety and injury prevention.
3. Collaboration and Advocacy:
Objective: Collaborate effectively with doctors, social workers, therapists, and other healthcare professionals to ensure coordinated care for children.
Objective: Advocate for the rights and best interests of their patients, especially when children cannot speak for themselves.
This includes tasks like:
Communicating effectively with healthcare teams.
Identifying and addressing potential risks to child welfare.
Educating families about their child's condition and treatment options.
4. Professional Development and Research:
Objective: Stay up-to-date on the latest advancements in pediatric healthcare through continuing education and research.
Objective: Contribute to improving the quality of care for children by participating in research initiatives.
This includes tasks like:
Attending workshops and conferences on pediatric nursing.
Participating in clinical trials related to child health.
Implementing evidence-based practices into their daily routines.
By fulfilling these objectives, pediatric nurses play a crucial role in ensuring the optimal health and well-being of children throughout all stages of their development.
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This visual guide breaks down important metrics across four categories: Patient-Centered Metrics, Care Efficiency Metrics, Quality of Life Metrics, and Staff Metrics. Each section is designed to help healthcare professionals monitor and improve care delivery for patients facing serious illnesses. Understand how to implement these metrics in your palliative care practices for better outcomes and higher satisfaction levels.
Defecation
Normal defecation begins with movement in the left colon, moving stool toward the anus. When stool reaches the rectum, the distention causes relaxation of the internal sphincter and an awareness of the need to defecate. At the time of defecation, the external sphincter relaxes, and abdominal muscles contract, increasing intrarectal pressure and forcing the stool out
The Valsalva maneuver exerts pressure to expel faeces through a voluntary contraction of the abdominal muscles while maintaining forced expiration against a closed airway. Patients with cardiovascular disease, glaucoma, increased intracranial pressure, or a new surgical wound are at greater risk for cardiac dysrhythmias and elevated blood pressure with the Valsalva maneuver and need to avoid straining to pass the stool.
Normal defecation is painless, resulting in passage of soft, formed stool
CONSTIPATION
Constipation is a symptom, not a disease. Improper diet, reduced fluid intake, lack of exercise, and certain medications can cause constipation. For example, patients receiving opiates for pain after surgery often require a stool softener or laxative to prevent constipation. The signs of constipation include infrequent bowel movements (less than every 3 days), difficulty passing stools, excessive straining, inability to defecate at will, and hard feaces
IMPACTION
Fecal impaction results from unrelieved constipation. It is a collection of hardened feces wedged in the rectum that a person cannot expel. In cases of severe impaction the mass extends up into the sigmoid colon.
DIARRHEA
Diarrhea is an increase in the number of stools and the passage of liquid, unformed feces. It is associated with disorders affecting digestion, absorption, and secretion in the GI tract. Intestinal contents pass through the small and large intestine too quickly to allow for the usual absorption of fluid and nutrients. Irritation within the colon results in increased mucus secretion. As a result, feces become watery, and the patient is unable to control the urge to defecate. Normally an anal bag is safe and effective in long-term treatment of patients with fecal incontinence at home, in hospice, or in the hospital. Fecal incontinence is expensive and a potentially dangerous condition in terms of contamination and risk of skin ulceration
HEMORRHOIDS
Hemorrhoids are dilated, engorged veins in the lining of the rectum. They are either external or internal.
FLATULENCE
As gas accumulates in the lumen of the intestines, the bowel wall stretches and distends (flatulence). It is a common cause of abdominal fullness, pain, and cramping. Normally intestinal gas escapes through the mouth (belching) or the anus (passing of flatus)
FECAL INCONTINENCE
Fecal incontinence is the inability to control passage of feces and gas from the anus. Incontinence harms a patient’s body image
PREPARATION AND GIVING OF LAXATIVESACCORDING TO POTTER AND PERRY,
An enema is the instillation of a solution into the rectum and sig
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What are the Pitfalls of Ignoring a Patient’s Family History
1. What are the Pitfalls of Ignoring a
Patient’s Family History?
6 min readHereditary Cancer
By Deepti Babu, MS, CGC, Independent GenomeSmart Contributor
As the understanding of genes and their impact on disease grows, so do the
number and types of available genetic tests. Many of these tests are large
multi-gene panels, some even targeted to a disease or phenotype, which gives
them a ‘one-size-fits-all’ impression. Since these panels can efficiently and
cost-effectively identify a hereditary underlying cause on their own, this begs
the question – why bother to collect your patient’s family history information?
Is anything gained from taking the time to do this?
The short answer is yes, but here is a quick summary of reasons to consider:
1. Family history helps direct the right genetic test to order
2. Patterns in the family medical history may reveal risks beyond those
which genetic testing can identify
3. Gathering family history engages patients and builds in space for them to
consider genetic testing
4. If genetic testing is completed, family history can inform the next steps,
particularly in the case of a negative (normal) result.
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2. You Might Not Order the Right Test:
Family History Helps Direct Genetic
Testing
As of 2018, almost 75, 000 genetic tests were available to order in the U.S.,
with more than 14 tests entering the market every day.1 Since many
healthcare providers already find navigating genetic testing challenging, having
more options – and at such a rapid pace – only compounds the problem.
Knowing a patient’s family history can direct the genetic test to choose,
particularly if the condition of concern is common (such as cancer). Family
history information could suggest a specific hereditary syndrome, which might
not be obvious in the patient alone. Considering the patient’s family history
lowers the chance of him or her having the wrong genetic test, which reduces
waste – particularly important if insurance coverage or other limits are a
factor. This also helps ensure that the test ordered isn’t missing relevant
genes, which could give the patient false reassurance if the test results are
negative. If you’re choosing a genetic test and not considering the family
history – before or after the test – you could be missing important signs of a
hereditary condition that isn’t already on your radar.
Example: Laurel has ovarian cancer and is being offered hereditary
breast ovarian cancer (HBOC) gene panel testing, based on her
diagnosis. However, she also has a history of colorectal cancer and
uterine cancer in one side of her family, which makes Lynch syndrome a
possibility. Therefore, Laurel could also be offered a Lynch syndrome
gene panel. Without the family history information, Laurel’s Lynch
syndrome testing might not get considered.
Example: Lin is 24 years old and 8 weeks pregnant. She has genetic
carrier screening based on her Southeast Asian ethnicity, which reveals
all negative (normal) results. However, Lin has a brother with intellectual
disability. Lin is at risk to be a carrier for fragile X syndrome and should
be offered genetic screening to determine if she is a carrier for this
condition that affects mostly males in a given family. Without examining
Lin’s family history, her appropriateness for fragile X screening would be
missed.
3. You Might Miss Things: Even Big Multi-
Gene Panels Aren’t Comprehensive
Broad panels can still miss relevant genetic findings in certain individuals,
which means they are not actually ‘one-size-fits-all.’ This is because all genetic
tests are only as good as current scientific knowledge allows, and only as
comprehensive as the genes included in the panel -- which is typically not all
genes associated with a possible diagnosis. Since disease-gene associations
are constantly being discovered, even the broadest gene panel available
today won’t include a disease-associated gene or variant that isn’t yet known.
Good medical-grade genetic testing laboratories try to minimize the impact of
this by reviewing and adjusting their testing regularly, but it’s just not possible
to ‘know what you don’t know.’ If you include family history information when
considering genetic testing options for a patient, this offers more data to
refine the process.
You Might Reduce Patient
Engagement: Family History Involves
Patients and Gives Them Time to
Consider Genetic Testing
Collecting family history information allows patients (and their families) to be
actively involved in their health and disease risk assessment, which is
something many of them want. Plus, family history data that patients and
families provide is usually more accurate than what is in the medical record.
The process of collecting a patient’s family history helps engage and educate
them about the possibility of a hereditary condition in the family. Going
through the process of risk assessment also gives breathing room to a patient
as they decide on genetic testing, which can be complicated.
4. You Might Make Incomplete Medical
Recommendations: When Genetic Test
Results Are Back, Family History
Impacts What You Do Next
Most genetic test results come back negative or uninformative, but not all
negative test results are equal. The patient’s family history can suggest a
residual risk or different inherited possibility, which would be missed if family
history data is not considered. Family history impacts the medical
recommendations a healthcare provider makes, or perhaps even additional
genetic testing to consider. Reviewing a patient’s genetic test results in the
context of their family history is particularly important if their result is a variant
of unknown significance (VUS). This is because a VUS does not usually impact
medical management, so all you’re really left with for clinical guidance is based
on the patient’s personal and family histories.
So in the end, who needs a family history taken? Everyone. It is absolutely
worth the time, considering what you lose by not collecting this valuable
information.
Family History Tips and Tricks
Aim for three generations, focusing on close relatives (first- and second-
degree relatives)
If you can, document ages at diagnosis, overall health status, any
exposures
Take note of:
Individuals diagnosed at a young age (such as diagnosed with
cancer before age 50), on the same side of the family
Multiple individuals with the same or similar diagnoses, on the same
side of the family
5. Ethnicity, as some hereditary conditions are more common in
specific ethnic groups
Any biological relatedness between reproductive partners, as this
might increase the risk for some hereditary conditions
Watch out for:
Similar environmental exposures, which can lead to familial
clustering of disease
Diseases with incomplete penetrance or late-onset of symptoms,
which can be masked in “healthy” individuals
Early deaths due to non-medical causes, which can mask a disease
presentation
Let your patient lead the process, which increases accuracy and saves
time
Online tools are available for gathering a family medical history
Families can share what they compile with relatives, allowing them
to update details over time (and share those with you)
Sample Family History Guidance from
Professional Medical Organizations
Expert Statement from American Society of Clinical Oncology (ASCO):
https://ascopubs.org/doi/pdf/10.1200/JCO.2013.50.9257
Committee Opinion from The American College of Obstetricians and
Gynecologists (ACOG):
https://www.acog.org/Clinical-Guidance-and-Publications/Committee-Opi
nions/Committee-on-Genetics/Family-History-as-a-Risk-Assessment-Tool?I
sMobileSet=false
American Medical Association (AMA):
