TMS - Genetic live transfer
TMS - Genetic live transfer
TMS - Genetic live transfer
A gene is the basic physical and functional unit of heredity. Genes are made up of
DNA.
Gene Mutation:
A gene mutation is a change in one or more genes. Some mutations can lead to
genetic disorders or illnesses.
Genes are the basic units of inheritance and are made up of chemicals called DNA.
Genes provide instructions for cells to make proteins that carry out all body
functions and form our physical characteristics. We each have more than 20,000
genes, and each gene is present in two copies. One copy is inherited from your
mother and one copy is inherited from your father. Genetic conditions are caused
by a change (or mutation) in one or more genes passed from generation to
generation. Most genetic conditions are inherited in an autosomal dominant pattern.
Autosomal means that both men and women are equally affected. Dominant means
that although there are two copies of each gene, a mutation in just one copy is
enough to cause disease. Therefore, a person with an autosomal dominant
condition has one normal copy of the gene and one copy with a mutation. The
chance of passing the abnormal copy of the gene to a child is 1 out of 2, or 50%. By
the same token, each child has a 50% chance of inheriting the normal copy of the
gene and have no risk for developing the condition (Figure 1). On average, half of
the members of a family with an autosomal dominant condition will develop the
disease.
Parent 1 has an autosomal dominant condition. The patterned shape represents the
copy of the gene with the disease-causing mutation. There is a 50% chance that
each child will inherit this copy of the gene. In this example, Child 1 and Child 3
both inherited the copy with the mutation from Parent 1 and are therefore at risk for
developing the condition.
The first step in trying to determine if the disease runs in your family is to draw a
pedigree. A pedigree (Figure 2) is a family tree that shows who has and who doesn’t
have the condition of interest. It is drawn to organize information about the medical
history of family members, illustrate who is affected, identify the pattern of
inheritance, and identify who is at risk for disease. In drawing the pedigree, it is
important to know whether your relatives have been diagnosed with any illness,
died suddenly or unexpectedly, or have other major medical problems. Sometimes
people may not be aware that they have a specific condition because their findings
are so mild, they haven’t seen a doctor recently, or they haven’t had the
appropriate tests performed. Knowing as many details as possible is important
because sudden death can be mistakenly labeled as heart attacks, drowning, or car
accidents. The sudden death of a previously healthy young person should be closely
examined.
Pedigree
A pedigree is a family tree. Squares indicate males and circles indicate females.
Darkened symbols indicate people who have the family's disease. The arrowhead
indicates the proband-- the person who is being evaluated for an inherited disease.
His family members are also at risk to develop the condition. The arrows point to his
first-degree family members (children, siblings, parents) who need periodic clinical
evaluation.
Because immediate, or first-degree, family members of a person with an autosomal
dominant condition each have a 50% risk of inheriting the gene mutation that
causes the family's condition, they should be evaluated by an experienced doctor to
see if they are affected. If a person is diagnosed with the condition, the first-degree
Lab Results
These individuals are also at risk to pass the mutation on to their children and
these children should be examined. Relatives who do not have the family's
disease-causing gene mutation are very unlikely to develop the family's
hereditary disease and cannot pass the family's mutation on to their children.
A negative result means that the laboratory was unable to find a mutation
capable of causing disease in any of the genes they evaluated. This result is
considered unhelpful because it is still possible that there is genetic cause for
a person's disease that was simply not detected by the technology used, or is
present in a gene that was not evaluated. In this case it is not possible to
offer predictive genetic testing to at-risk family members to determine their
risk of developing the disease. Therefore, all first degree family members
should continue to undergo the screening recommended for the family's
condition. Genetic testing may be reconsidered in the future if there is new
information available about the potential genetic causes of the condition
Important things to remember about genetic testing:
• Genetic testing can be a helpful tool when approached and interpreted properly.
• Genetic testing should be considered a family test rather than a test that is
relevant or accurately interpreted on only a single individual.
• It is not always possible to find a disease-causing gene mutation. Diseases may
still be inherited even if the genetic test result is negative.
• Not all changes in the DNA are harmful or capable of causing disease
• It may take time to determine whether a DNA change is harmful or not. Reviewing
both medical and genetic information from family members can provide important
insights, particularly if relatives that have the disease can be evaluated.
• Our understanding about gene mutations is likely to change over time and test
results may be updated.
• Each individual should make a personal decision about whether to pursue genetic
testing after carefully considering how they feel about the potential value and the
limitations of the information.
• Understanding your family history is important. Talk to your relatives to try to
develop a good knowledge of the family's medical history.
*Good State* AL, AK, AR, DE, DC, GA, HI, ID, IL, IN, IA, KS, KY, ME, MD, MA, MN,
MO, MT, NE, NV, NH, NJ, NM, ND, OK, RI, SC, SD, TN, TX, VT, WV, WY
IMMUNODEFICIENCY QUALIFIERS
1 PERSONAL + 2 FAMILY MEMBERS
1-2 MAJORS FOR PERSONAL & FAMILY / ADD ON AS MANY FLUFFERS FOR 2ND FAMILY MEMBER IF
CAN'T FIND ANY MAJORS FOR 2ND FAMILY
ASK: Have you or any blood related family members, whether living or deceased, ever had a history of:
1) TYPE 1 DIABETES - Insulin Dependant (This can be genetic - if PT has, most likely a family member
has/had it as well).
2) RHEUMATOID ARTHRITIS or PSORIATIC ARTHRITIS (effects the skin/usually has Psoriasis along with
this type of arthritis) (genetic - if PT has, most likely a family member has/had it as well)
3) MULTIPLE SCLEROSIS
4) LUPUS
5) Stomach Digestive issues: IRRITABLE BOWEL (IBS), DIVERTICULITIS, ULCERATIVE COLITIS OR CROHN’S
8) GRAVES’ DISEASE - Underactive thyroid (ONLY USE AS GRAVES IF PT SPECIFICALLY SAYS GRAVES)
11) CELIAC DISEASE - Gluten Sensitivity (digestive issues w/ protein found in wheat, barley/rye
12) AUTOIMMUNE CANCER - LYMPHOMA, LEUKEMIA OR MYELOMA) 12) SJOGREN’S SYNDROME -
Chronic dry mouth dry eyes
13) MYASTHENIA GRAVIS - Muscle weakness and muscle fatigue/ neuromuscular disease
15) HEMOPHILIA - Blood can’t clot properly - excessive bleeding after injury or surgery
16) HEMOLYTIC ANEMIA - Rare blood disorder in which red blood cells are rapidly destroyed
17) ECZEMA OR PSORIASIS - Skin condition that causes inflamed, itchy, cracked and rough skin (IF THEY
HAVE KIDS/GRANDKIDS, ASK IF WHEN THEY WERE BORN DID THEY HAVE ANY ECZEMA? SOMETIMES
BABIES ARE BORN WITH IT (USUALLY - VERY COMMON) AND GOES AWAY.
ALSO ASK: DID YOU AND/OR FAMILY MEMBER ALSO HAVE RECURRING EAR INFECTIONS? WERE EAR
TUBES PUT IN THEIR EARS AS WELL? IF YES, ADD “RECURRENT EAR INFECTIONS/TUBES IN EAR”
5) PANCREATITIS
7) STOMACH ULCERS
NEUROCOGNITIVE QUALIFIERS
1 MAOR FOR FAMILY / 2-3 PERSONAL FOR PERSONAL/PATIENT
BEGIN WITH FAMILY HISTORY- IF THERE IS NO FAMILY MAJOR FROM THE BLOW LIST, MOVE ON TO
AUTOIMMUNE SCREENING:
2) ANXIETY (SAME - ASK IF EVER IN THE PAST DEALT WITH ANXIETY) - TYPE IN “GENERALIZED ANXIETY
DISORDER”)
4) SLEEP APNEA (TYPICALLY WILL USE A CPAP MACHINE-WHICH AUTOMATICALLY QUALIFIES THEM -
ALSO AUTOMATICALLY QUALIFIES THEM FOR INSOMNIA/TROUBLE STAYING ASLEEP - TWO SEPERATE
QUALIFIERS)
9) TREMORS
10) EPILEPSY/SEIZURES
SCRIPT:
Hi, this is (Agent Name) with Senior Medical in the Health and Wellness
department, how is your day going so far?this call is in regards to a Hereditary
Genetic Screening, I see here you have showed you interest in getting this
screening done, is that correct?
Let me ask you Mr./Mrs. _________, have you suffered from any (Neuro / immune)
conditions recently or in the past, such as *check qualifiers*?(Wait for answer)
Do you have any family history of *check qualifiers*? Or have any of your family
members been diagnosed with*check qualifiers*?
Ok, what we do is send a simple to use saliva test kit to your home, and the test can
identify if you or your family members are at a HIGHER RISK for hereditary (neuro/
immune) conditions. So, this test can not only benefit you, but also your family
members such as children or grandchildren. Does that make sense? (Wait for
answer)
Ok, I just need to verify some basic information. *Verify First Name, Last Name, DOB
and Address*
Can you please grab your red, white, and blue Medicare Health Insurance card?
(Wait for card)
Please read me your name and member ID number exactly as it appears on your
Medicare Card.
Alright now I'm just going to read our disclosures to you and you’ll be all set. Your
medical notes will be professionally reviewed by the telemedicine nursing staff and
sent to a telemedicine Dr licensed in your state
You’re choosing to use the telemedicine services to receive a prescription for the
hereditary screening requested, Please know that you have the right to inspect all
information obtained and you do understand that none of your information will be
disclosed without your consent, is that correct?
Ok (PT NAME) ______ I have all the information confirmed, the next steps are very
easy. Your telemedicine DR will get the information we collected sent over to him
today, remember we only work with licensed Drs in your state
will then ship a large envelope directly to your home. Inside this envelope there is a
kit to collect the genetic material for testing, keep this kit safe, a nurse staff will call
you to assist you in the process,
Once you're finished you simply leave the envelope for the mail-man to retrieve and
return to start the testing process.
Within 1-2 weeks you will be able to review the results of the test and if you do have
the genetic markers, they will go over a plan of action for you and your family.
Before I let you go we need to inform you that this screening is a benefit provided
by your insurance and is designed to assist you medically. Please note, you should
not have been offered any form of incentive or compensation to participate in this
screening. This screening is solely for your health and well-being, and there are no
financial rewards or compensations involved.
Thank you so much for your time, I’m going to transfer you over to the verification
department who are going to make sure I took your information correctly, thank you
so much for your time please hold the line.