Medical application of genetics

What is the goal for new born screening?

Goal is to reduce morbidity and mortality of children and cost savings through early prevention and treatment

The life time cost of downsyndrome is what?

Half a million dollars

Companies that have less than ___ employess are not effective as well.

15

When is amniocentesis usually perfromed?

15-20weeks

Penn will check for PKU which is what?

-Phenyl allanine—if the body cant break down the children will need low protein diet they can develope brain damage if they dont do this -galactsemia-metabolic disorder really rare—inability to metabolize lactose and infants will need low galatcose diet or milk free to prevent complications: death-liverfailure-mental retardation -most babies checked for hypothyroidism- This is a screening which is checking their risks

What are the fetal diagnostic procedure?

-amniocentesis (15-20wks) -chorionic villus sampling (CVS) after 10weeks) -percutaneous umbilical cord sampling aka cordocentesis (20 weeks)

Second trimester screening:

-blood tests (15-20 weeks)—getting closer to cut off for having an abortion -MSAFP-maternal serum alpha fetal protein -Estriol -beta -hCG -Inhibin

What can genetic counseling help the patient do when discussing genetic testing?

-coordinate tests -interpret test results

What are the barriers of pharmacogenomics?

-cost of genetic testing33-710 per test -incorporation into EMR-may get lost if only done once even tho more easily get lost in chart -education—we need more clinical education—interpretation of test prescribing becomes more complicated than it is already

What are the prenatal testing?

-first trimester screening -second trimester screening

Pharmacodynamic: what are some of the multi-factorial factors?—not just genetics

-genetic mutations—just a piece -environment-alot -age-alot -state of health-comorbidities -diet -concomitant drugs/supplements

Genetics in medicine: cornerstone is genetic counseling!—:

-identifies families at risk -investigates problems that are present in family-look for patterns people who have died of some sort of heart disease sudden death before age of 50-probz genetic -analyzes inheritance patterns and risk of recurrence— -reviews variable options with the family Our job is to refer to genetic cousnelign

What were the project goals for the human genome project?

-identify all the approx 20,000-25,000 genes in human DNA -determine the sequenced of the 3 billion chemical base pairs -store this information in databases for use -improve tools for data analysis -address the ethical, legal, and social issues that may arise from the project

What is carrier testing offered to?

-individuals who have a family history of genetic disorder-known or suspected -people in ethnic groups with increased risk of specific genetic condtions

What can family history tell us?

-multiple affected individuals -early age of onset of disease -severity of disease -presence of disease in the less-frequently affected sec -recurrence of disease despite preventive measures -history of rate condition in family

Public expectations and fears: - - -

-psychological impact on patient -potential impact on extended families -uncertainties

What are the barriers of gene therapy?

-short lived-nature of gene therapy -immune response -problems with viral vectors -multigene disorder

First trimester screening:

-ultrasound (10-14 weeks) -nuchal translucency -Blood tests: -PAPP-A -Beta-hCG

When was the human genome project completed?

2003

Life time cost of spina bifida

250,000

There is a ____ -____% chance of breast cancer a ___-____% chance of ovarian cancer and also prostate cancer there is no surveillance for that as well and age is variable—-

36-85%; 10-44

Early age of onset of disease—look for it people shouldnt develope diseases like this...cancer under the age of ____ is not normal—

40

Prenatal genetic testing has reduced genetic disease by how much?

5%

Colorectal cancer the benefits are less clear—its useful to screen patients with a significant family history of colon cancer...so anyone who has had a family member of colon cancer under the age of

50

New born screening: prof believes that there are ___ mandated tests in pennsylvania but there is about 27 additional disorders that can be tested as well. Each state has their mandated—DO NOT NEED PARENTAL CONSENT—they do these test on a dry sample of blood—poke babies heal :(

9

This differs from human genetics—what is human genetics?

A field of scientific research that may or may not apply to medicine—medical genetics is specifically the application to genetics to medical care

Multiple affected individuals: if you have a patient who comes in and have a family history of multiple ppl in their family developing colon cancer before the age of 50-there is probaby what?

A genetic condtion—same with heart disease

4th: multigene disorder—in a multigene disorder this will not going be helpful—this type of gene therapy is really useful and best for what?

A single gene disorder

When is percutaneous umbilical cord sampling aka cordocentesis performed?

After 20 weeks

What is an example of an invasive diagnostic test?

Amniocentesis or chorionic villus sampling

A positive test can be inprecise of the measure their risk and can cause what?

Anxiety, discrimination, and no effective treatment or prevention and don't know when going to develop it—so not always helpful to know

Genetic counseling can ___ a patients risk of passing disease onto childern.

Assess

What kinds of genetic conditions are caused only when the change or mutation is present on both genes of a pair?

Autosomal recessive

What kind of condition/disorder is caused when there is a change or mutation on both genes

Autosomal recessive disorder

The addition of inhibin A—gives a little more info why?

Bc inhibin A is reduced in down syndrome

When can diagnostic tests be performed?

Before birth or at anytime during a persons life

Mediterranean/SE Asian/ African American

Beta-thalassemia/alpathalassemia

We want to understand genetic factors and human disease—this will pave the way for what?

Better diagnosis, better treatment, better prevention—-but very complicated more than 2,000 genetic test for human conditions and allows patients to know their risk for disease

There is some studies saying if a woman does not go under go prenatal screening and a has a child with a disorder that could have been diagnosed the women is what?

Blamed for that

It may subject patient to unnecessary ____ draws.

Blood—so it is a little less useful moving up the line

Presence of disease in the less-frequently affected sex someone who has a father who developes ___ ____.

Breast cancer

What must PA's know?

Can you diagnose and treat a patients genetic disorder? No Does your patient need genetic assessment?

Ashkenazi jews

Canavan disease and familial dysautonomia

So studies provide evidence that intervention reduces the likelihood from dying from this type of ___.

Cancer

Where do we see where pharmacogenetics could decreasing the overall cost of healthcare ?

Cancer patients, pain management, behavior med

They use a ___ ___ which is used as a ___ to deliver therapeutic gene to patient's target cell.

Carrier molecule; vector

Used to identify people who carry ONE COPY of a geen mutation that, when present in two copies, causes a genetic disorder

Carrier testing

What are the types of genetic screening tests?

Carrier testing Prenantal testing New born screening

What is a new prenatal test?

Cell free DNA (cfDNA)—screening test—abnormal—still do more testing

When are diagnostic tests often used?

Confirm a suspected diagnosis—we see a family history of a certain disease so we say why don't check this out

This is something we here a lot about developing drugs that compensate genetic differences in patients. Ppl have varied responses to medicine. An example is what?

Coumadin—adjust coumadin levels depending on INR—was a art more thanscience bc varied so much low dose and INR high and then half a pill and high dose and not reaching goal -this beenfits from personalized medicine

Pharmacogenomics: you want to understand an individuals genetic makeup=this is the key to what?

Creating personalized drugs with greater efficacy and saftey AND SAFTEY

Gene therapy—is only testing for things without any __.

Cure

Caucasions of european and ashkenazi decent

Cystic fibrosis

What are some of the diseases that are currently being researched?

Cystic fibrosis, sickle cell anemia, hemophillia, muscular dystrophy, cancer —ydont have a cure yes certain treatments to help alelviate symtpoms but not cure—

____ ____ is the group of enzymes we look at the most.

Cytochrome P450

How do they diagnose Huntingtons disease?

DNA studied through a series of PCR testing—estimates number of CAG repeats within the IT15 gene

If someone wanted to do prophylaxis for breast cancer—so tomoxifin—-that would do what?

Decrease their breast cancer risk but increase their risk of having endometrial cancer

Diagnostic test are used to ___ or ___-___ a specific genetic or chromosomal condtion.

Diagnose or rule out

Genetic screening DOES NOT ____ it gives a ___.

Diagnose; risk

What is diagnostic geentic testing?

Diagnosing a disease

More invasive testing would be _____.

Diagnostic

Used to diagnose or rule-out a specific genetic or chromosomal condition

Diagnostic tests

Cell free DNA may have fall positive and false negative results—it is NOT ___. Patient should also be offered ___ or ____. Still not used at first-line screening for most women.

Diagnostic; MSAFP; ultrasound

Genetics isnt everything there is other factors as well that cause_____

Diseases

Clinical issues: education of ___ and other health service providers—patients in the general public—are we capable of doing this—there are scientific limitations, and social risks, are there quality control standards in place—all things we have to worry about—how are these geentic tests going to be evaluated and regulated for accuracy for liabilty and utility—-i think there is very little regulations at this point and time at the federal level

Doctors

Lots of info to think about and things we should always be thinking about when we are dealing with patients.

Done

Fertility docs in US do have ethical guidelines that limit the use of this embryo screening technology. It is really used exclusively for major and small groups of abnormalities like what?

Dushein muscular dystrophy, deviating disease cost lots of money, leads to early death of child's Used for family history of cystic fibrosis

IVF may produce 5-6 10 embryos in culture dish in labortry and then take a single cell in the dish and determine fi that one is with tay-sah's or the one without and then selectivley only put back embryos free of tay sachs

Fact

Genetic counseling can ____ the patient / family about the disease.

Educate

Breast and ovarian cancer so screening does not lead to simple straight forward measure reduced risk—so doing the BRCA test we dont know so there may be a decreased utility of doing testing—-so if someone is positive for brca 1 or broca 2 we know that only 5-10% of breast cancer is caused by these mutations—people who have a mutation for BRCA 1/BRCA2 may develope what?

Either breast ovarian cancer both or neither

When we have early intervention it can____ or ____ symptoms

Eliminate or reduce—thats why done so early

Embryo/preimplantation testing: they get a DNA sampling from the ___ (created in-vitro by the combination of a mothers egg and fathers sperm)- analyzed for ___ ____ that can cause disorders

Embryo; gene abnormalties

It is not just genetic influences the ___ also influences disease.

Envirment

Most disabilities found at brith are not genetic you cant find prenataly most disabilities at birth come from what?

Enviromental toxins; lack of O2 at birth; some disease the mother had while she was prego—so we iwll have plenty of ppl with disabilties

What will help with knowing if your patient is at risk for a genetic disease?

FAMILY HISTORY-the first genetic test

"A little knowledge is a dangerous thing"—genetics- predictive medical testing—is a tiny bit of knowledge about an extremely complex subject

Fact

Basically we have been basing treatment on evidence based guidelines forever—baed on large clinical trial and large populations—-what about the individuals who dont respond to this medication?

Fact

Harmful is getting a test and it saying you have a mutation and there is no treatment for it —is that helpful to you or is it less harmful to not know it and just to live your life normally not knowing that you are going to get this disease and then eventually developing it as an elderly patient

Fact

How do we prepare clinicians for this new genetic——how are we prepared to counsel people on this when they order tests from online—it is going to be difficult

Fact

In the ethicacy of mammograms in patients who are 25-35 years old really its unknown—most of the time it isnt useful because breast tissue is too dense

Fact

It is predictive that they may get it but it is not definite. There are some diseases if you do have a mutation for it you will get it ..

Fact

Lets say someone comes in and say we want to start having a baby—refer to genetic counseling—and say you should probably get tested—or say have you considered carrier testing

Fact

May not be covered by insurance so more studies need to be done to if based on pharmacogentic data are offset by avoiding drug failure or adverse affects

Fact

Predictive/presymtpomatic testing—may show that someone has a mutation BUT its variable—if someone has a mutation for some diseases it may not show up—even knowing you may have that mutation may still give you a risk of getting that disease.

Fact

Some of these can cross over it isnt just certain tests fall under a certian place— tests it can be diagnostic and predictive

Fact

Some ppl do first trimester only some ppl do second and some ppl do both and get a higher certanity of RISK.

Fact

"Each family ought to have the fullest opportunity to see what life with a particular disability is like"—understands fears—techniological advvances in prenatal testing go hand and hand with improved services and civil rights with people with disabilities and we will never have disbailities disapperar

Facts

Finding out a genetic diagnosis can have a psychological impact on the patient—- Pts shld talk with their families about finding out geentic condtions—-do they want to know? This can be huge issues between families—-and all type of uncertainties—but there is complex condtions that they really dont know—we have to think about things should testing be performed when there is no treatment avalible—should parents have the right to test their children for adult onset diseases—are all these genetic tests reliable or interapable

Facts

If you or your patient falls in one of these groups these are the things that they may want to be tested for before having a baby

Facts

They use this in britain for screening for embryos for cancer genes

Facts

Australiia germany, italy, switzerland, and nether lends perhibit any kind of germ cell gener hterapy in application in humans

Facts—

There are tests to see who is a over metabolizer or under metabolizer and weather they need a higher or lower dose of a certain med or weather that med is going to work at all for them

Fact—this is happening now!

What are some specific diagnostic tests?

Fetal diagnostic procedures and genetic disorder and diagnostic tests

These tests dont come without risk either—there are risks even tho they are VERY low to the ___.

Fetus

Why?

For technical and ethical reasons Insufficient knowledge about possible risks for future generations And higher risks vs somataic cell gene therapy

1st barrier: Short lived nature of gene-before gene therapy can become permanent and a permamnet cure the therapuetic DNA must remain ___ and the cells containing the DNA must be ___ ___ and ___.—-it needs to be stable so there are some problems with integrating DNA —-the germline cell gene therpay may be more difficult because of the rapidly dividing nature of those cells—cells rapidly divide and it prevents geen therpay for having any ___ ___ benefits; its not easy or simple—they may need ___ ___ bc the short nature of gene

Functional; long lived and stable ; long term; repeat

The somatic cell gene therapy will not affect __ ___.

Future generations

So small business are not affected by the ___ __.

GINA act

What does medical genetics incorporate?

Gene therapy Pharmacogenomics/genetics Predictive medicine

An EXPERIMENTAL technique for CORRECTING DEFECTIVE GENES (mutations) responsible for disease development

Gene therpay

Both parents are typically tested in carrier testing. This provides information about a couple's risk of having a child with a ___ ____.

Genetic condtin

What can help patients understand their risk for genetic condtions?

Genetic counseling

Genetics in medicine: the cornerstone is what?

Genetic counseling—where we play a vital role!

Embryo/Preimplantation Testing: tests for ___ ___ ___ __ used in IVF (in vitro fertilization)

Genetic flaws among embyros

A drop of blood or hair can contain this ___ ___.

Genetic information-did a poll about 90% say insurance companies cant use genetic tests—do you really want to known your gentic defects that cnt be corrected

The GINA act does prohibit the use of any kind of ____ ___ in health insurance and _____. So health plans specifically can not deny coverage or change premiums—like increasing premiums based on genetic predispotion. And employers cant use it for hiring purposes and cant use it for job placement or promotion purposes

Genetic information; employment

What are the different types of predictive medicine?

Genetic screening tests Diagnostic genetic tetsing Predictive and presymptomatic testing

Genetic counseling can DISCUSS __ ___

Genetic testing

Study of single genes and their effects

Genetics—variation among people and study the affects of how they are transmitted

Genomic is something that has been used to understand the structure of the ____ including the ___ of____ and _____ of DNA

Genome; mapping genes; sequencing

Single gene is genetics and all genes is what?

Genomics

The study of all genes and their function

Genomics

Germ cells (sperm or egg) are modified by introduction of functional genes

Germline cell gene therapy

Alzheimers disease this predictive test can actually do ___.

Harm

Diagnostic testing results can influence a persons choices about ___ ___ and ___ of the disease.

Health care and management

Recurrence of disease despite preventive measures—we talk about preventive measures some ppl are really healthy run, ate healthy, appropriate weight, BMI yet still have ____

Heart disease

Utility of predictive is not always going to be ____.

Helpful

There is already tests to tell whether a breast cancer patient will respond to a drug called what? And have test for warriferin (coumadin) as well

Herceptin

Germline is ____ and is passed on to later generations.

Heritable —will affect later generations

Utility of predictive genetic testing what stages?

High utility, low utility, harmful

A 13 year project coordinated by the US dept of energy and the NIH

Human genome project —(NIH national institutes of health)-

In adults there is certain genetic disorders and diagnostic tests that are known what are two of them?

Hypertrophic cardiomyopathy and huntingtons disease

What pressures are there for woman to produce a better baby?

If you asked questions about the public and legislator there is high acceptance of a womans right to terminate a severely handicapped fetus

What does it mean high utulity mean?

If you do a predictive genetic test and it shows they have a mutation for this and that they will most likely develop this condition there is something you can do to either prevent it or improve their symtpoms or how they are going to react to this

Genomics is a more recent term and coined when?

In 1986

How does gene therapy work?

In most studies—a "normal" gene is inserted into the genome to replace an "abnormal" gene (disease causing gene)

Genetics origins were in the mid 19th century with gregor mendel—so human genetics began when?

In the earlier 20th century

Eelevaated hCG and decreased PAPP-A they are what?

Increased risk for down-syndrome —and if found to be increased risk then should be offered further diagnostic testing

Reproductive issues: we need to have adequate ___ ____ for complex and potentially controversial procedures. The use of this genetic info in reproductive decision making is always controversial. Do health care professionals properly counsel patient about their risks and limitations of genetic technology? How reliable and useful is field genetic testing?

Informed consent

Genomics examines the molecular mechanisms and the ______ of ____ and ___ ___ in disease.

Interplay of genetics and the environmental factors in disease

2nd barrier: immune response. The immune system attacks ____. And an enhanced response will make it really difficult to repeat therapy so in some cases you will have an enhanced response.

Invaders

What PAs must know about geentics!?

Is your patient at risk for a genetic disease

However there are other factors that contribute to an increased iron load so utility of testing is ___ useful than multiple endocrine neoplasia type 2.

Less

IMPORTANT: the law DOES NOT cover what?

Life insurance, disability insurance, or long term care insurance

What does prenatal testing look for?

Looks for things like neural tube defects; indicating if they have a risk for down syndrome or other symptoms as well

Triple screen would include what?

MSAFP Estriol Beta-hCG

Quad screenn in the second trimester includes what?

MSAFP, Estriol, beta hCG, inhibin

What are they looking for in nuchal translucency?

Measuring the thickness of the nuchal fold at the back of the neck of the fetus—an increased in size—meaning a fluid collection in the back of the neck —increased fluid and size measured and increased- they are at higher risk for chromosomal genetic and structural abnormalities—AT RISK-not absolutley have that

Both fields are understanding human biology ____ and ___ __.

Medicine and public health

Multiple endocrine neoplasia type 2: this is a rare disorder but people are almost certain to develope ____ ___ ____ unless they are given what?

Medullary thyroid carcinoma; a prophylactic thyroid ectomy

The study is mostly relation to genes determine a drug ____.

Metabolism

Pharmacodynamic response is ___ -____

Multi factorial

You can actually prevent a thryoid carcinoma by getting inervention if you have what?

Multiple endocrine neoplasia type 2

Embryo/preimplantation testing: fertility specialist can use the results of this analysis to select only ___ -____ embryos for implantation into the mothers uterus

Mutation free

What does cfDNA not screen for?

Neural tube defects—ultra sound screens for this

Used after birth to identify genetic disorders that can be treated early in life

New born screening

What is the most widely performed type of genetic testing in the US?

New born screening

What is the most widely performed type of genetic testing performed in the united states?

New born screening

What is the GINA act?

New federal law that prohibited discrimination in health coverage and employment based on genetic information—signed into law in may of 2008-basically who has access to genetic information and applying HIPPA to genetic information

Can a PA diagnose and treat a patients genetic disorder?

No, but we can have indication of their risks

Some medication do have side affects are they always because of metabolism?

Not sure- thats why doing this investigation and learning more about can help

What are they looking for in the first trimester screening when they do a ultrasound at 10-14 weeks?

Nuchal translucency

So this person even if they are treated with somatic cell gene therapy they can still pass on defective genes to their ___.

Off spring

___ ____ can reduce the risk of ovarian cancer but can increase the risk for ___ ____.

Oral concreptives; breast cancer

So what they would do is increased the surveillance and get frequent colonscopies——but patients with a genetic mutation for non polyposis colon cancer are also at risk for other cancers like what?

Ovarian, endometrial cancer, there are no known screenings for those

Blood test: in first trimester screening

PAPP-A: prenant associated plasma protein A And beta hCG

New born screening: most states will mandate newborn screening and do not require___ ____.

Parental consent

What are predictive/presymptomatic testing offered to?

People who have a family member with a genetic disorder, but who have no features of the disorder themselves at the time of testing—-want to see if they are going to get this

Saftey most important part—why waste your time with a medication that is not going to be safe or effective for a patient —-part of the emerging field called

Personalized medicine (pharmacogenentics)

The study of how an individuals genetic inheritance affects the bodys response to drugs

Pharmacogenomics

The study of the variability in drug response due to heredity

Pharmcogenetics

Hemochromatosis is uncommon but not a rare disease—people get increased iron deposition in their tissues, it can lead to diabetes, cirrhosis, heart disease, arthritis and what is the trreatment?

Phlebotomy —simple effective and preventive of other diseases

We could do a diagnostic test when a person has ____ sign and symptoms that may make practitioners suspicious about a certain condition or if someone has a ___ ___ of the disease that makes you suspicious that there might be genetic. So if a family has a known mutation you can check for that as well

Physical; family history

What does cell free DNA test use?

Plasma of pregnant woman

A prophylactic thyroid ectomy can prevent who to develope what cancer?

Ppl with multiple endocrine neoplasia type 2; medullary thyroid carcinoma

Field of medicine that entails predicting disease through genetic testing so that heathy individuals and their practitioners can participate in certain measures to either prevent or decrese the disease impact

Predictive medicine

Used to detect gene mutations associated with with disorders that appear after birth, often later in life

Predictive/presymptomatic

Detects changes in a fetsus's genes or chromosomes before birth

Prenatal testing/screening

Which of the following findings in a patients family history indicates that your patient may be at increased risk for a genetic disease?

Presence of disease in the less-frequently affected sex —-why not? B? Having a first degree relatively rare health condtion

What are the 2 things that predictive medicine can do?

Prevent the disease OR decrease the disease's impact upon the patient (or decrease the risk of getting the disease)

Gene therapy is ___ but very __.

Promising; risky

Ethical and legal issues:

Public expectations and fears Antidicrimination laws (GINA Act) Clinical issues Reproductiev issues

GENOMICS in medicine: major opportunities to improve health and increase the power of diagnosis and treatment. IMPORTANT- with the ___ ___ in __ and the __ ___ of patient genomic information——clinicians are able to more accurately diagnose conditions and develop what?

Rapid decline in cost; widespread utelization; personalized treatment plans

When we identify this we do what?

Refer to genetic counseling —we play an important role

What is the most common approach to gene therapy?

Replacing a mutated gene with a healthy copy of the gene

What are the approaches to gene therapy?

Replacing a mutated gene with a healthy copy of the gene Inactivating a mutated gene that is functioning improperly Introducing a new gene to help the body fight a disease

So what viruses do they use?

Retorvirsues, adenoviruses, herpes simplex viruses

Predictive/presymptomatic testing—can provide info about a persons ___ of developing a specific disorder and help with making decisions about medical care

Risk

Prenantal testing—again this asses ____. Not ____. Otherwise known as prenantal screening

Risk; diagnostic

Sometimes prenatal testing can lessen couples uncertanty or help them to decide weather to abort their pregnancy —it can not identify all possible disorders or birth defects—-again this is a test that give them a ___. It tells them what their risk is so they can choose whether or not they want to do more ____ testing.

Risk;invasive

What does the cfDNA screen for ?

Screens only for common trisomies —does not screen for neural tube defects

Does your patient need genetic assessment? What 3 things can u do?

Send to genetic counseling Education Possible genetic tests

This noninvasive test-prenantal testing- is done through what?

Serum screenings, ultra sounds, and it looks for things like neural tube defects

What are the tests for select racial/ ethnic groups: African american

Sickle hemoglobinopthaies

Therapeutic gene transferred into any cell (except gamete germ cell etc)

Somatic cell gene therapy

What are the types of gene therapy?

Somatic cell gene therapy and germline cell therapy

What therapy will only affect the individual being treated?

Somatic cell gene therpay

We look at what enzymes that are basically responsible for breaking down or eleminating those medciation. There are more than 30 medications that are affected what are some?

Some antidepressant-protonics pump inhibitors that are given for reflux anticoagulants, warrfrin or coumadin—and opiods

We are the people in the front lines that recognize people may have a genetic disease in their family and we do this by what?

Taking a very long and detailed history

Ashkenazi jews/French canadians/Cajuns

Tay-sachs disease

Blood test and ultrasound we are looking for something specific to just give some indication that we need more ___

Tests

When you move up the line towards low utility to harmful what does harmful mean?

That you have mutation for a disease that is going to or may not develop and there is nothing you can to do to prevent it and actually knowing if you are going to get that disease eventually is more harmful than actually knowing that you have a risk for i

The US has no federal control specifically addressing human genetic modifcation beyond what?

The FDA regulations for therapies in general

Antidiscimination laws is called what?

The GINA act—genetic information nondiscrimination act of 2008

Medical genetics is the speciality of medicine that involves what?

The diagnosis and management of hereditary disorders

From recording: what separates modern genetic practice from the battle days of eugenics is what?

The individual retains the right to decide what to do but occroding to this professor that theory does not always translate into practice

What does the first trimester screening accesses???

The risk of down syndrome; trisomy 13 and trisomy 18

We do have the ability to build a genetic profile for each individual patient—it would tell us what?

The susceptibility to diseases heart disease, cancers, and show how people respond to certain drugs

Genetic screening tells us what?

Their risk of getting a disease

How do they diagnose hypertrophic cardiomyopathy?

They can do a direct DNA sequencing of genes-screens for mutations associated with the disease

What happens to under or poor metabolizers?

They cant break down medications fast enough—they develop toxicity and really severe sideaffects to those meds that other people dont

Who do they perform carrier testing?

They do it from either saliva or a blood test —-tests for a specific mutation in that condtion

How do we make the public make informed choices?

Think about

What is the purpose of prenatal testing?

To define the risk for a genetic disease in a low-risk population——used to only be offered to couples with an increased risk —like women with a history of genetic mutation—women over the age. 35-women with a history of pregnancy loss —someone who is advanced paternal age—used to be old recommendations

3rd barrier: viral vectors very useful but worry about ___ with this and worry about ___ and ___ responses. And always that fear that the virus will recover its ability to become a ___.

Toxicity; immune and inflammatory; disease

What type of metabolisms?

Ultra metabolizers: ppl who break down medications way too quickly —b4 have chance to work Extensor metabolizers: most common—normal drug metabolism Intermediate drug metabolizers: 45% of patients-depends on enzyme—may or may not have lower efficacy for them Poor or under metabolizers: unable to break down medications fast enough——

There is some conditions that predictive genetic testing will be very useful and have high ____.

Utility

What is the most commonly used vectors in gene therapy?

Viruses

So would giving them this knowledge that they may develope those cancers as well and they have no screening what so ever be helpful to them?

We dont know-think about it

Patients will utilize the results of the prenatal test—first trimester screening or second trimester screening— to decide what?

Weather or not to have further testing done—the further testing would be diagnostic —should be offered to all patients —they have the right to refuse and take the risks and live with that choice

The analysis of all the data they got from the human genome project will continue for __.

Years

When is chorionic villus sampling done? (CVS)

after 10 weeks-earlier in pregnancy

What are the new recommendations

offer prenatal screening for all women and all parents

What are the benefits of pharmcogenetics?

potential to revolutionize treatment with medications - reduce adverse affects-not just to medication having patients come back in over and over again—increase cost for them -avoid ineffective medications-why give ineffective medication to anyone -decrease overall cost healthcare-decrease number of adverse drug reaction=hospitalization—life saving decrease cost for them and hospital—decrease time-and decrease trial and error—happens in treatment of depression—no result try something else