Genetics & pregnancy! How do you pass along genes to your future baby?

Planning for a baby after 30s has become the new normal. Are you too on the bandwagon?

Well! With age come the increased chances of passing along genetic risks to your future baby. That could pose the danger of birth disorders or certain serious diseases on your baby’s health.

“Know your genes before you conceive”, says our experienced geneticists & your gynecologist will recommend the same too.

If you’re planning to get pregnant after your 30s, then you must give deliberation to prenatal genetic healthcare along with routine checkups.

Let’s dig deeper to understand how genes & pregnancy are interrelated.

Genes, pregnancy & genetic inheritance


When a couple is planning to get pregnant, they pass along two sets of genes to their future offspring; one from the mother & one from the father. The sperm & the egg (two sets of DNA which include chromosomes & genes) combine to form a new mixture that is the unique genome of the baby.

The genes transmitted by the parents attribute traits such as eye color, hair, and blood type to the offspring. While if, by any chance, either of the parents passes along any unusual genes (mutation), that leads to exposing the baby to the risks of genetic conditions or birth disorders.


What does it mean to be a genetic carrier?


A genetic mutation is any unusual change in the genes of either or both the parents. Even if a parent might look or feel healthy, if he/she has a genetic mutation and transmits it to their child, there are high risks of passing along genetic conditions. When a woman crosses her desired fertility age of 25-30 years, she is more prone to be the carrier of genetic mutation.


Gene changes in human cells


Every human has two types of cells.

The sperm and egg cells are known as ‘germ’ cells. Every other cell in the body is ‘somatic’ (cells related to the body).

If a change in a person’s genes occurs in the somatic cells, they might experience the condition related to that change but won’t transmit it to their children.

If any change in the genes happens in the germ cells, that person’s future baby has a high chance of inheriting the altered gene. And for women like you, who are entering into family planning after 30 years, the risks of mutation in the germ cell are slightly higher.


How & when do genetic conditions arise?


Genetic conditions arise in the future baby due to any unusual changes i.e., the genetic mutation in either or both parents. Scientists estimate that more than 10,000 conditions are caused by changes in single genes.


A baby can inherit genetic conditions in three different ways

How can you plan for a healthy pregnancy then?


Prenatal genetic healthcare is the way forward to healthy family planning.

It helps to understand your genetic history, inheritance, and wiser ways to avoid the risks of genetic conditions. A genetic counsellor can help you know all about your genes & support you emotionally too. A counsellor is a qualified professional in genetics & counselling. They can help you identify any genetic risks early and make informed choices even before conception.

You can always find a trusted prenatal genetic healthcare partner with us at trugeny. Our goal is to lead you towards a safe and healthy pregnancy & a risk-free family planning. You can schedule a tele-genetics counselling session with one of our counsellor. Once he/she does a detailed analysis of your genes, taking the forward steps to a healthy pregnancy becomes easier for you. If need be, the counsellor will suggest you take a prenatal genetic carrier screening test to ascertain that you might not be the carrier of genetic mutation to your baby.

Rest assured, it’s completely safe & non-invasive. Also, throughout your prenatal genetic care, we remain in constant touch with your ob/gync to share your genetic testing reports with them.

If you’re up to it, it’s the right time to talk to a genetic counselling expert.



Your Genes Matter. Take Charge.



Genetic screening for birth disorders! How does it help in planning a healthy pregnancy?

Are you two planning to get pregnant? And you don’t want to take any risks? Then, there are high chances that your doctor can suggest genetic carrier screening.

Why? That’s to prevent any risks of either you or your partner passing along genetic diseases or birth disorders to your children.

Genes come in pairs at the time of birth. A baby gets two sets of genes: one each from mom & dad both. The sperm & the egg (two sets of DNA which include chromosomes & genes) combine to form a new mixture that is the unique genome of the baby.

When a gene from one or both the parents contains a mutation (an unusual change), the risk of passing on that mutation to your baby arises. That future offspring might be prone to developing certain birth disorders or serious diseases.

Troublesome, isn’t it?

Well! Luckily there is a very useful tool at your disposal that can help you find out if you’re a carrier of any genetic mutation. It will lead to avoiding the risks and making informed choices. That is, Genetic Carrier Screening!

Let’s understand: What is genetic carrier screening?


Once you start planning for a baby, you take care of your health on priority. Isn’t it? That includes your routine health checkups to ensure that you both can go ahead and plan a safe pregnancy.

Similarly, genetic screening is also a cautionary medical test that lets you know whether you or your partner is a ‘carrier’ for certain genetic disorders. And to check if there are any odds that your future offspring might inherit them. Carrier screening will make you informed and help to make wiser decisions.


What does it mean to be a genetic carrier?


A carrier is someone whose DNA contains a genetic mutation (as mentioned above) that’s the harbinger of a disease, even though you might be absolutely healthy.

When planning for a baby, if either or both the would-be parents are the carriers, they pass the genetic mutation along to the future child. The outcome: the baby suffers birth disorders or certain serious diseases.

Although some mutations are harmless, some others are slightly risky, while some lead to serious illness. Whatever it is, you can’t take the risk! Right?


Who should consider taking genetic carrier screening?


Carrier screening is recommended for all couples who are planning to conceive.

Prenatal testing is the best strategy for reducing the burden of genetic disorders and birth defects that cause significant postnatal functional impairment. Universal prenatal screening is advisable for common genetic disorders such as Down syndrome, beta thalassemia, neural tube defects.

However, it’s completely up to the would-be parents to decide about taking it or not. The aim of screening is always to provide you with all the genetic information that helps avoid the risks of birth disorders and make informed decisions that suit your socioeconomic, family & individual situation.

For whom genetic carrier screening is recommended?


  •   Couples who’re planning for a baby for the first time
  •   Women who are above 30 years of age & planning to get pregnant
  •   Either one or both partners have inherited genetic illness
  •   Women who’ve suffered one or two miscarriages
  •   Parents having one child with serious birth disorder

Most common genetic diseases


  •   Heart defects
  •   Down syndrome
  •   Neural tube defects
  •   Blood disorders (Sickle cell disease & Thalassemia)

The future of safe pregnancy: Prenatal Genetic counselling & carrier screening


Prenatal genetic healthcare helps you get ready for a healthy postnatal world. The best time to know all about your genes is before getting pregnant. You can always start on your genetic healthcare by talking to a counselling expert. He/she can guide you on the further steps whether you require undergoing genetic testing or not.


A carrier screening test is recommended if either one of you has any genetic inheritance or illness history. Or even after an expert does the analysis, if any risk of mutation is hinted at, a carrier screening test is always advisable. These tests are mostly conducted to identify the likelihood of certain birth or genetic disorders in the baby.

Carrier screening tests are non-invasive in that they are often done through a simple blood test. There are minimal/no chances of getting any physical risks after this test.

If you’re planning to get connected with a trusted prenatal genetic healthcare partner, trugeny’s geneticists and counselling experts are there to take care of you. Throughout your prenatal & postnatal genetic care, we remain in constant touch with your ob/gync to share your genetic testing reports with them. Our goal is to lead you towards a safe and healthy pregnancy & risk-free family planning.

If you’re up to it, it’s the right time to talk to a genetic counselling expert.

Book your genetic counselling session now!




Your Genes Matter. Take Charge.



Pre Pregnancy checklist: 5 things to do now if you’re planning for a baby

That’s great news!

Finally you guys are thinking of planning a baby and getting promoted to ‘parenthood.’ That’s so cool!

From pink to blue, let all your dreams come true. Now is the right time to start preparing your mind, body, and life to welcome your honey bunny on a healthier and happier note.

Let’s get started on preparing your pre-conception to-dos checklist one by one. Here we go!

Do you & your man tally?


Having a baby is a big responsibility. From me to we; you’re planning to go three, or four maybe. So you both have to be mentally prepared. The baby steps to family planning start with having a parenting talk with your partner. For e.g., how will you share the childcare? Will both of you continue working, or will either one stay at home? Vent out your fears, talk about your expectations, and set priorities. Start training your mind that, going forward, whatever decisions you’ll have to make, you need to think from your lil one’s perspective.

Now decide, are you both ready mentally?


Think about money honey


All the Ps and Bs of family planning come costly. Have you thought about planning a baby from a financial perspective? If not, consider that too. Because even before you start trying to conceive, you’ll need to shed bucks too early in the cycle. From your regular ob/gyn visits to routine check-ups to pregnancy & delivery, bringing a baby costs a fortune. Try having a nest egg set up where you can stash funds for all things family planning. You’ll feel better, safe, and well prepared to bring your munchkin into this world.

Your granny gave the same advice too. Isn’t it?


Take care of your body


You’re going to be the creator! Stop obsessing over the 36-24-36 frame of the body. Give a break to carelessly putting on those extra kilos. Your body needs to be super fit to conceive healthily and deliver happily.

So step on the scale. Check your weight. Devise a plan to exercise regularly. Perfectly balanced body weight will help you conceive easily with fewer risks and complications. Your BMI should be between 19 & 24; that is the get-pregnant ideal.

Next, go off the contraceptive pills. Start observing your natural menstrual cycle, ovulation, & the most fertile time. Another important thing is to pop in multivitamins. That means cutting down on junk & leaning more on a healthy diet. Consume lots of greens, citrus, beans, nuts, veggies, and whole grains. Your body will need lots of protein, iron, calcium, and folic acid. Consult your doctor to start taking multivitamin pills. A daily dose of 400 micrograms of folic acid will help prevent spine and brain-related birth defects.


Take it easy with miscellaneous care


Family planning is part and parcel of life. Don’t go overboard with doing this or not doing that. From an infant to a toddler, to a tween or a teen, you will become an expert too. So take a chill pill. Relax! Go for movies. Plan a babymoon with your hubby. Stock up on sleep. Talk to your mom about her pregnancy. But remember to curtail those addictive coffee sips to one or 2 cups a day. Less boozing & less frequent partying. Your favorite restaurants? Yes. Enjoying with your girlfriends? Yes. But less shopping, as you won’t be going to fit in those clothes for now. Last but not least, try to stay away from stress, be calm and happy.


Get a routine health check-up of your Genes


While planning for a baby, don’t forget that your genes matter. A baby inherits one set of genes from the mother, while another from the father. You may or may not have a family history of genetic disorders, but why take a risk! Sometimes a carrier of a genetic disorder doesn’t even know that he/she is a carrier because there are no symptoms. But any genetic risk when passed on to the baby can be the cause of certain birth defects or serious diseases like Down syndrome, Cystic fibrosis, or even Huntington’s disease.

Prenatal Genetic Counselling will help you understand your genetic health & take preventive actions for any risks. Undergoing early Genetic screening will help in making informed decisions right from the start of your family planning. All you have to do is schedule a Prenatal Genetic Counselling session with an expert, just like the way you plan your regular obstetrician visits. And you both will be on the way to a healthier pregnancy.


Find your trustworthy prenatal genetic healthcare partner


We always have a family doctor and a family gynecologist whom we trust blindly. At TruGeny, you can find the same level of comfort and confidence for your Prenatal Genetic healthcare. Our experienced counselors can talk with you at length to understand your genetic history and guide you in the right direction. You may or may not need a Genetic Screening or Prenatal Genetic testing; our expert will help you find out everything.

For the well-being of your baby, talking to a Genetic counseling expert is worth giving a shot. Right? You can do that right from the comfort of your home by scheduling a virtual session with us. So go ahead, book your session now & together, we can plan for a healthier junior version of you or your partner.



Your Genes Matter. Take Charge.



Plan your pregnancy better during Covid-19 with prenatal genetic testing

And they lived happily ever after!

Glad to meet you at this beautiful junction of life with your partner. We hope you’re ready to take happier strides towards planning a family & foreseeing a future full of precious moments with a healthy baby.

Well! If now’s the time, we suggest taking your routine health care seriously.

Right from planning a family to conceiving, nurturing the embryo & fetus, & delivering a healthy baby, your health matters & so do your genes.

Importance of genes: The vital steps of family planning during Covid-19


Identify the risks early & take preventive measures


It’s the best of times for you to think about getting pregnant; it’s the worst of times out there with Covid-19. So take calculative & precautionary baby steps!

While you’ve started making a chart about the mental, physical & financial aspects of family planning, have you thought about your genes?

Genes are the one that defines your baby. You may or may not have a family history of genetic disorders that could be passed on to your offspring, but you can’t take risks. Isn’t it?

During the tough times of the pandemic when every ringing doorbell, every footstep outside, & every single contact could bring unforeseeable danger, it is vital to identify risks & take preventive measures.

While the Corona virus is known to bring communicable illness, genes play a prominent role in passing on non-communicable diseases. During pregnancy or family planning, genetic disorders (changes in a person’s genes due to missing or extra chromosomes) can make the baby unhealthy.

So, what should you do?

The answer to all your queries related to risk-free family planning lies in prenatal genetic counselling & testing.

What is prenatal genetic counselling & testing?


Genetic testing means getting your DNA diagnosed & tested for genetic disorders. Prenatal genetic testing is doing the same before planning a family or during the pregnancy to become aware of the risks of passing on any genetic abnormalities to your future children.

US National Library of Medicines suggests that prenatal genetic testing is the best approach to get aware of the genetic abnormalities before getting pregnant. A prenatal screening test can help you to plant the seeds of genetic testing in the preconception stage of family planning to detect the risks of defective genes beforehand.

Genetic counselling before genetic testing


Genetic counselling helps you & your partner understand your genes based on your heredity & family history.

Understand your risks through counselling.

Get to know whether you require genetic testing or not.

If yes, find out the appropriate genetic test for you through experts.

Discover the likelihood of defective genes, & plan preventive & healthy measures.

Schedule a safe prenatal genetic counselling session from the comfort of your home. TruGeny’s flexible tele-genetics platform connects you with expert counsellors via phone or online consultation at your convenience.

Types of genetic testing for family planning


Prenatal screening tests


These tests will make you aware of the risks of any genetic abnormalities in either one of you before conceiving. Also they make you well aware of the possibility of passing on genetic disorders to your baby.


Carrier screening tests


Before planning a family, a Carrier screening test will help you to foresee the risks of inherited disorders from genetic changes in either one of you. It involves screening the blood tests or saliva samples.

You as a couple can easily opt for the Carrier screening test before getting pregnant. It is the safest way to understand your genes before entering into family planning.


Prenatal diagnostic tests


This is the next big step of detailed analysis of the placenta to check the actual health of the fetus.


Even before the genetic counselling! Do you as a couple require prenatal genetic testing?


The best plan for a baby can be made by his parents. Even before scheduling a meeting with a genetic counselling expert, these factors can help you to decide when should one opt for genetic counselling?

Is it safe to undergo prenatal genetic testing during the pandemic?


While you can get genetic counselling done from the comfort of your home, the counsellors will tell you the next steps.

If you require prenatal genetic testing after that, consider it like one more visit to your gynecologist. This time, to foresee the contingencies, & prepare yourselves for a healthier pregnancy & delivery.

Getting a genetic test done before planning a family & during pregnancy will make you prepared to take informed & preventive steps in delivering a healthy baby. You can always show these reports to your gynecologist to get more assurance & confidence in the early stages of your family planning & throughout your pregnancy.

You can always choose a reliable health partner like TruGeny to help you undergo prenatal genetic testing while maintaining the necessary precautions for Covid-19.

Benefits of prenatal genetic counselling & testing


How accurate is prenatal genetic testing?


In most cases, the results of prenatal genetic testing are accurate. However, there are chances of getting the false-negative or false-positive results that vary from test to test. So it is always advisable to choose expert counsellors & trusted genetic testing partners to minimise the risks of getting inaccurate test results.

Also, there is a lot of anxiety that couples experience during prenatal genetic testing. That is absolutely normal for the parents-to-be!

Ignorance is not bliss while planning a baby. A genetic disorder can make a predominant impact on the well-being of your family. The change in genes indicates the risks of Down syndrome or serious brain & spinal abnormalities in the embryo.

It’s up to you to decide to go with or against prenatal genetic tests after consulting an expert genetic counsellor’s opinion.

However, keep in mind – Prevention is always better than cure! So choose wisely.

Reliable health partners for prenatal genetic counselling


The ongoing pandemic has made it imperative to take your routine health care seriously. When it comes to starting a family, you must make informed decisions for your preconception & pregnancy health without an iota of doubt.


At TruGeny, our expert team of genetic counsellors will guide you to taking the baby steps of family planning peacefully & carefully. You can rest assured that this certified team of genetic counselling & testing services will assist you in understanding your genes better. Any risks of the defective genes that have the slightest chances of getting passed on to your baby can be detected much earlier. Or how about getting satisfied & worry-free after prenatal genetic counselling or testing that there is no risk at all?

Congratulations! That’s good news indeed.

Together, let’s build a healthier & joyous future full of happy family for you.

Take the first right step towards your family. Book an appointment for prenatal genetic counselling for both of you right away.

Visit www.trugeny.com

What causes breast cancer, is it a genetic disease?

Acknowledging Genetic Counsellors

What is cancer

Before we get into understanding cancer, it’s important to understand about our bodies. Cells are the basic units that make up the human body. Everyday inside us, cells grow and divide to make new cells as we need them to perform basic functions like digesting food and utilising oxygen from air. Usually, cells die when they get too old or damaged. Then, new cells take their place. Cancer begins in people when their genetic changes interfere with this orderly process. In such individuals, cells start to grow uncontrollably. These cells forms a mass or a tumor in an affected area of the individuals body. But not all tumors are cancerous, people have lived with such tumors for years. Unfortunately cancerous tumor is malignant, meaning it can grow and spread to other parts of the body. It affects various functions of the body leading to unhealthy and life-threatening conditions.

What is breast cancer

Cancer can occur in any part of our body, breast cancer starts in the breast tissue. In breast cancer patients the cells usually form a tumor that can be felt as a lump or seen through medical imaging, such as mammograms and MRI. Breast cancer occurs almost entirely in women, but men can get breast cancer, too.

What causes breast cancer

If you have ever talked to a breast cancer survivor and ask them how did they get the disease? They may not have an answer, as all the medical attention is focused on treating the disease and saving the patient’s life. Studies suggest that the cause of breast cancer is linked to hormonal, lifestyle and environmental factors affecting a woman with a susceptible genetic risk. The breast cancer survivor that you may have known, may not have been through a genetic counselling or test. The patient could have taken better choices for healthy living, if the risk was known to her. Lot of grief to you and your family members can be avoided by opting for a simple genetic counselling session. It is important for you to understand that breast cancer occurs when some breast cells begin to grow uncontrollably. The immune system likely encounters and eliminates cancer cells on a daily basis. But cancer causing cells escape the immune surveillance, these cells divide more rapidly in an individual’s body. They continue to form, accumulate and form a lump or tumour. It can take several years for the cellular changes and tumour formation in your body to become visible and get detected in normal breast examination. Genetic tests can assess your risks profile to take preventive measures.

Are you at risk?

Risk factors for developing breast cancer include obesity, lack of physical exercise, drinking alcohol, hormone replacement therapy during menopause, exposure to ionizing radiation (x-rays), early age at first menstruation, having children late or not at all, older age, prior history of breast cancer and family history. About 5–10% of cases are due to genes inherited from a person’s parents. India is a country with many communities where there is high load of genetic disorders. It is recommended by experts to get a genetic counselling and test conducted before entering into life-events such as marriage and pregnancy planning – that also brings additional responsibilities to you.

What are the consequences of breast cancer for women?

Breast cancer is ranked number one cancer among Indian females. In a women population of 4000 at least one woman has the disease. Unfortunately about 12 women out of 1 Lakh population face death issues. In metro cities hectic work schedules and high number of patients for check-ups adds to the difficulty in availing healthcare. Women staying in smaller cities may not have access to start-of-the-art facilities and specialist physicians. In either case, the delay in identifying affected women aggravates their disease condition and makes the situation complex for them and their families.

What can you do?

Spread awareness so that every woman can take a proactive approach to their health. Self-care and care of immediate young and elderly dependents is required. You can take measures for early screening that identifies immediate signs and symptoms. For a better understanding of prolonged outcomes of your breast health, genetic tests can be helpful. It can help identify your risks of acquiring breast cancer based on personal history, family history and scientific validation. Certified genetic counsellors at truGeny are available on call or chat, to explain you about genetics and its link for reducing breast cancer risk.



Your Genes Matter. Take Charge.




Women with Breast Cancer Gene Mutation are prone to get Uterine cancer

Acknowledging Genetic Counsellors

According to a study, women who carry the BRCA1 gene mutation, that is responsible for breast and ovarian cancers, are at a higher risk for the deadly form of uterine cancer.

Since a conclusive link between the Breast Cancer gene mutation and a significant risk of developing uterine cancer has been found, doctors have changed the approach of the treatment which is more like proactive. The process is similar to removing both the breasts after breast cancer.

But conflicting evidence has created controversy over the need to remove the uterus. Smaller studies identified a link between the Breast Cancer gene mutation and uterine cancer, but the evidence to change practise has hinged on results from a well-designed study using a larger patient population from multiple sites.

Doctors say that this is the study that was necessary. The study presents the strongest evidence to date that women with this genetic mutation should at least discuss with their doctors the option of having a hysterectomy along with removal of their ovaries and fallopian tubes.

In a current study, analysed data from 1,083 women where all had Breast Cancer (BRCA1 or BRCA2) genetic mutations, had undergone removal of their ovaries and fallopian tubes, and were followed for a median 5.1 years.

Of those eight cancers, however, five were of an uncommon subtype called serous endometrial cancer, which is especially aggressive. All but one of the serous endometrial cancers occurred in women with the BRCA1 genetic mutation (one occurred in a patient with BRCA2 mutation).

Given the incidence of this cancer in the wider population, only about .18 cases would be expected among women with the BRCA1 mutation over the time period analysed, putting these women with the BRCA1 trait at significantly higher risk.

“We were surprised when we saw the data,” Kauff said. “This is an event that should not occur in the over 600 women with BRCA1 mutations in our study. Even if we followed these women for 25 years, you would only expect to see no more than one serous cancer.”

Kauff said the findings are especially important because serous endometrial cancer has a mortality rate of 50 percent and is preventable for women who are already undergoing surgical procedures toremove their ovaries and fallopian tubes.

“Our findings suggest that it may be important for women with BRCA1 mutations to consider removing their uterus at the time they are considering removing their ovaries and fallopian tubes, unless they are hoping to still have children using assisted reproductive methods or have other medical reasons,” Kauff said.

Kauff cautioned that for women with BRCA1 mutations who have already undergone surgeries to remove their ovaries and fallopian tubes, the findings are less clear.

“We need additional studies to address whether a 25-year risk of serous uterine cancer of 2.6 percent to 4.7 percent justifies the costs and potential complications of a second surgery,” Kauff said.

Role of truGeny

trugeny is a telegentic platform of India that provides a complete solution for Genetic Counselling and Testing Services. Our expert counsellor goes through a thorough investigation of you and your family’s medical history. They diagnose the risk of you being susceptible to Breast Cancer or any other Genetic disorder. Based on the counselling report, Testing is advised. Post the testing, the results are again briefed to you for a clear understanding of your health. Further, the experts will also guide you through your future decisions.

Visit www.trugeny.com today to book an appointment today!



Your Genes Matter. Take Charge.




Hereditary Cancer Syndrome

A type of inherited disorder in which there is a higher-than-normal risk of certain types of cancer. Hereditary cancer syndromes are caused by mutations (changes) in certain genes passed from parents to children. In a hereditary cancer syndrome, certain patterns of cancer may be seen within families. These patterns include having several close family members (such as a mother, daughter, and sister) with the same type of cancer, developing cancer at an early age, or having two or more types of cancer develop in the same person. Examples of hereditary cancer syndromes are hereditary breast and ovarian cancer syndrome, Li-Fraumeni syndrome, Cowden syndrome, and Lynch syndrome. Also called family cancer syndrome and inherited cancer syndrome.

    Content:
  • An individual who inherits a cancer susceptibility variant always get cancer?
  • What are the genetic tests available for cancer risk assessment?
  • Who should consider genetic testing for cancer risk?
  • What is the role of genetic counselling in genetic testing for a hereditary cancer syndrome?
  • Role of truGeny

  • An individual who inherits a cancer susceptibility variant always get cancer?
    No. Even if a cancer susceptibility variant is present in a family, it does not necessarily mean that everyone who inherits the variant will develop cancer. Several factors influence whether a given person with the variant will actually develop cancer. One is the penetrance of the variant. When not all people who carry a variant go on to develop the disease associated with that variant, it is said to have incomplete or reduced penetrance. Hereditary cancer syndromes can also vary in their expressivity—that is, people who inherit the variant may vary in the extent to which they show signs and symptoms of the syndrome, including the development of associated cancers. Lifestyle factors and environmental risks can also influence disease expression.

    What are the genetic tests available for cancer risk assessment?
    More than 50 hereditary cancer syndromes have been described; see the PDQ Cancer Genetics Overview for a list of familial cancer susceptibility syndromes. Most of these are caused by harmful variants that are inherited in an autosomal dominant fashion—that is, a single altered copy of the gene inherited from one parent is enough to increase a person’s chance of developing cancer. For most of these syndromes, genetic tests for harmful variants are available. Tests are also available for several inherited genetic variants that are not associated with named syndromes but have been found to increase cancer risk. Examples include inherited variants in PALB2 (associated with increased risks of breast and pancreatic cancers), CHEK2 (breast and colorectal cancers), BRIP1 (ovarian cancer), and RAD51C and RAD51D (ovarian cancer).

    Who should consider genetic testing for cancer risk?

    People who are concerned about whether their family history puts them at risk for cancer should consult with a genetic counsellor. The features of a person’s personal or family medical history that, particularly in combination, may suggest a hereditary cancer syndrome include:

    • Cancer was diagnosed at an unusually young age
    • Several different types of cancer occurred in the same person

    • Cancer in both organs in a set of paired organs, such as both kidneys or both breasts
    • Several first-degree relatives (the parents, siblings, or children of an individual) have the same type of cancer (for example, a mother, daughter, and sisters with breast cancer); family members with breast or ovarian cancer; family members with colon cancer and endometrial cancer
    • Unusual cases of a specific cancer type (for example, breast cancer in a man)
    • The presence of birth defects that are known to be associated with inherited cancer syndromes, such as certain noncancerous (benign) skin growths and skeletal abnormalities associated with neurofibromatosis type 1.
    • Being a member of a racial or ethnic group that is known to have an increased risk of having a certain inherited cancer susceptibility syndrome and having one or more of the above features as well
    • Several family members with cancer
    • If a person is concerned that they may have an inherited cancer susceptibility syndrome in their family, it is generally recommended that, when possible, a family member with cancer have genetic counselling and testing first, to identify with more certainty if the cancer in the family is due to an inherited genetic variant. Genetic testing is often more informative if it can begin in a family member with a previous or current cancer diagnosis than in someone who has never had cancer.
    • If a person in the family has already been found to have an inherited cancer susceptibility syndrome, then any family members who could have inherited the variant should consider genetic testing, even if they have not (yet) had a cancer. Knowing about their risks may help them to prevent a future cancer.

    What is the role of genetic counselling in genetic testing for a hereditary cancer syndrome?

    Genetic counselling is generally recommended before any genetic testing for a hereditary cancer syndrome and may also be performed after the test, especially if a positive result is found and a person needs to learn more about the hereditary cancer predisposition syndrome they have been found to have. This counselling should be performed by a trained genetic counsellor or other health care professional who is experienced in cancer genetics. Genetic counselling usually covers many aspects of the testing process, including:

    • A hereditary cancer risk assessment based on an individual’s personal and family medical history
    • Explanation of the specific test(s) that might be used and the technical accuracy of the test(s) and their interpretation
    • Discussion of:
      • The appropriateness of genetic testing and potential harms and benefits of testing
      • The medical implications of positive, negative, and uncertain test results
      • The possibility that a test result might not be informative (that is, it might find a variant whose effect on cancer risk is not known)
      • The psychological risks and benefits of genetic test results
      • The risk of passing a variant to children
      • The impact of testing for the family
      • The best test to perform


    Genetic counselling may also include discussing recommendations for preventive care and screening with the patient, referring the patient to support groups and other information resources, and providing emotional support to the person receiving the results.

    Learning about these issues is a key part of the informed consent process for genetic testing. Written informed consent is usually obtained before a genetic test is ordered. People give their consent by signing a form saying that they have been told about, and understand, the purpose of the test, its medical implications, its risks and benefits, possible alternatives to the test, and their privacy rights.

    Unlike most other medical tests, genetic tests can reveal information not only about the person being tested but also about that person’s relatives. Family relationships can be affected when one member of a family discloses genetic test results that may have implications for other family members. Family members may have different opinions about how useful it is to learn whether they have a disease-related genetic variant. Health discussions may get complicated when some family members know their genetic status while other family members do not want to know. A conversation with genetics professionals may help family members better understand the complicated choices they may face.

    Role of truGeny

    Genetic Testing is the future of medical treatment. And truGeny is a thorough Genetic Counselling and Testing services platform.

    Genetic counsellors from truGeny are certified and will help you in understanding the risk of you inheriting any a genetic cancer risk, by understanding your health and family history. They will further guide you whether you require Genetic Testing. Post the testing process, the experts guide you through your report helping you plan your course of action.

    Genetic Counselling and Testing will build a stronger and healthier tomorrow. We believe with your support we can help in bringing the change. Let us join hands together. Let us choose to be healthy, be strong.

    Book your appointment now! Visit www.trugeny.com



    Your Genes Matter. Take Charge.




    Common Cancer Myths and Misconceptions

    Cancer is not only a deadly disease; it is a sensitive topic too. It creates a stir not only in the patient but amongst their loved ones too – both emotionally and financially. Hence, it is very important to know about the facts relating the same. Misleading data might cause uncalled for situations eventually hindering good prevention and treatment decisions. Here below, we clarify some of the common myths and misconceptions regarding cancer.

    1. Is cancer a death sentence?

    The most common misconception people dwell with is cancer is always deadly – which is not true. With the progress in medical science, the chances of dying with cancer have reduced. Five-year survival rates for some cancers, such as breast, prostate, and thyroid cancers, now are 90 percent or better. The 5-year survival rate for all cancers combined is currently about 67 percent. However, the span of an individual cancer patient will depend on many factors, including whether the cancer is slow or fast growing, how much the cancer has spread in the body, whether effective treatments are available, the person’s overall health, and more.

    2. Will eating sugar make my cancer worse?

    No. Although research has shown that cancer cells consume more sugar (glucose) than normal cells, no studies have shown that eating sugar will make your cancer worse or that, if you stop eating sugar, your cancer will shrink or disappear. However, a high-sugar diet may contribute to excess weight gain, and obesity is associated with an increased risk of developing several types of cancer.

    3. Do artificial sweeteners cause cancer?

    No. Researchers have conducted studies on the safety of the artificial sweeteners (sugar substitutes) saccharin; cyclamate; aspartame; acesulfame potassium; sucralose; and neotame and found no evidence that they cause cancer in humans. All of these artificial sweeteners except for cyclamate have been approved.

    4. Is cancer contagious?

    In general, no. Cancer is not a contagious disease that easily spreads from person to person. The only situation in which cancer can spread from one person to another is in the case of organ or tissue transplantation. A person who receives an organ or tissue from a donor who had cancer in the past may be at increased risk of developing a transplant-related cancer in the future. However, that risk is extremely low—about two cases of cancer per 10,000 organ transplants. Doctors avoid the use of organs or tissue from donors who have a history of cancer.

    5. Does my attitude—positive or negative—determine my risk of, or likely recovery from, cancer?

    To date, there is no convincing scientific evidence that links a person’s attitude to his or her risk of developing or dying from cancer. If you have cancer, it’s normal to feel sad, angry, or discouraged sometimes and positive or upbeat at other times. People with a positive attitude may be more likely to maintain social connections and stay active, and physical activity and emotional support may help you cope with your cancer.

    6. Can cancer surgery or a tumor biopsy cause cancer to spread in the body?

    The chance that surgery will cause cancer to spread to other parts of the body is extremely low. Following standard procedures, surgeons use special methods and take many steps to prevent cancer cells from spreading during biopsies or surgery to remove tumors.

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    7. Will cancer get worse if exposed to air?

    No. Exposure to air will not make tumors grow faster or cause cancer to spread to other parts of the body.

    8. Do cell phones cause cancer?

    No, not according to the best studies completed so far. Cancer is caused by genetic mutations, and cell phones emit a type of low-frequency energy that does not damage genes.

    9. Do power lines cause cancer?

    No, not according to the best studies completed so far. Power lines emit both electric and magnetic energy. The electric energy emitted by power lines is easily shielded or weakened by walls and other objects. The magnetic energy emitted by power lines is a low-frequency form of radiation that does not damage genes.

    10. Are there herbal products that can cure cancer?

    No. Although some studies suggest that alternative or complementary therapies, including some herbs, may help patients cope with the side effects of cancer treatment, no herbal products have been shown to be effective for treating cancer. In fact, some herbal products may be harmful when taken during chemotherapy or radiation therapy because they may interfere with how these treatments work. Cancer patients should talk with their doctor about any complementary and alternative medicine products—including vitamins and herbal supplements—they may be using.

    11. If someone in my family has cancer, am I likely to get cancer, too?

    Not necessarily. Cancer is caused by harmful changes (mutations) in genes. Only about 5 to 10 percent of cancers are caused by harmful mutations that are inherited from a person’s parents. In families with an inherited cancer-causing mutation, multiple family members will often develop the same type of cancer. These cancers are called “familial” or “hereditary” cancers.

    12. If no one in my family has had cancer, does that mean I’m risk-free?

    No. Based on the most recent data, about 38 percent of men and women will be diagnosed with cancer at some point during their lives. Most cancers are caused by genetic changes that occur throughout a person’s lifetime as a natural result of aging and exposure to environmental factors, such as tobacco smoke and radiation. Other factors, such as what kind of food you eat, how much you eat, and whether you exercise, may also influence your risk of developing cancer.

    13. Do antiperspirants or deodorants cause breast cancer?

    No. The best studies so far have found no evidence linking the chemicals typically found in antiperspirants and deodorants with changes in breast tissue.

    14. Does hair dye use increase the risk of cancer?

    There is no convincing scientific evidence that personal hair dye use increases the risk of cancer. Some studies suggest, however, that hairdressers and barbers who are regularly exposed to large quantities of hair dye and other chemical products may have an increased risk of bladder cancer.

    Should genetic testing be offered to all patients with breast cancer?

    Conducting multigene testing on breast cancer patients when they are diagnosed is cost effective and could potentially save the lives of thousands. But many patients are not offered the testing based on existing criteria, which means people carrying cancer genes are not given the opportunity to find out if they are carriers.

    Multigene testing includes an evaluation for the BRCA1, BRCA2 and PALB2 genes. The genes have been linked to inherited cases of cancer. Mutations to the genes can put men and women at a higher risk of breast cancers as well as other cancers.

    Currently, testing is restricted based on a patient’s family history or clinical criteria. While certain Breast Surgeon societies recommend genetic testing for all, some does not.

    Dr. Ranjit Manchanda, a lead researcher and professor, said that about 50 percent of BRCA carriers do not meet the existing criteria to qualify for genetic testing. As a result, about half of them are at risk but don’t know it. Additionally, only 20 to 30 percent of patients who meet the criteria are referred for and access BRCA testing.

    He also says that all breast cancer patients should be offered the option of multigene testing. This approach will save many more lives and prevent many more breast and ovarian cancers than the current clinical approach. According to him there is no benefit of testing being restricted.

    A study conducted by an Oncology society assessed data from 959 breast cancer patients and found that only 49.95 percent met the testing criteria. And recommended complete genetic testing.

    Another study was based on data from more than 83,000 women on cancer registries. About one-quarter of them with breast cancer had genetic testing.

    Several organisations recommend genetic testing for ovarian cancer, but there are fewer that do for breast cancer patients.

    Dr. Peter D. Beitsch, a surgical oncologist from Texas who was part of a supporting study told that he agrees that breast cancer patients need genetic testing upon diagnosis. The new research is in line with his findings.

    Family support for Cancer Patients

    Cancer is a severe blow not only for the person with the disease but for his or her family too. In light of the illness, family of the cancer patient have to think about how they relate to cancer and the person who has it. It is hard to see a loved one becoming sick while at the same time learning new qualities and attitudes in oneself.

    Many questions prey on cancer patient’s family’s minds. Will he/she recover? What should you say to the person who has cancer? How can I best be a support? Should I talk about cancer to him/her? Many people feel that they are reacting and thinking about it wrongly.

    Each person faces the crisis in his or her own way. It often takes a while before you are ready to take in the fact of having a serious illness. Work, hurrying about or drinking can all shield one from reality. Absorbing the situation will happen in its own time. A practical and calm approach will help you face the situation and avoid unnecessary anxiety.

    The best support the family can give those with cancer is to be there for them and to be prepared to listen to them. It is better to encourage loved ones who are ill to talk about difficult matters than to try to get them to forget about their critical situation. It also takes courage on the part of listeners to confront their own feelings. Sometimes loved ones may feel disappointed if those who are ill do not respond as was hoped, but instead remain aloof or reject the help being offered them. However, the support and care that relatives and friends provide is not wasted.

    Read about Rehabilitation Courses

    Content:

    • Advice for the family of cancer patients
    • Support for the family
    • Peer support and discussion

    Advice for the family of cancer patients

    1. Support the cancer patient as best you can. Sometimes simply your presence and nearness are enough.
    2. Keep up relationships outside the family. Relatives and friends are needed for support during recovery.
    3. Try to continue doing the things and recreation that have previously been a source of strength.
    4. Supporting someone who is ill is easier when you deal with your own fears, for instance by discussing them with a third party.
    5. Be available and tell the person who is ill that you are available.
    6. If the person who is sick withdraws and does not want to talk, continue to be present and to offer help.
    7. Remember that the illness is tiring: if the person who is ill does not feel up to doing something together today, they might tomorrow.

    Support for the family

    When a family member has cancer, it requires energy and endurance on the part of other family members and friends. If some things feel too difficult to cope with, it’s good to say so openly.

    A loved one of someone with cancer may also need help and support. Family members and friends can get in touch with available advice services or visit an oncology nurse at one of the regional cancer associations.

    Peer support and discussion

    Some regional cancer associations have provided training for family support persons. These are volunteers who are also the relatives of cancer patients.

    Regional cancer associations and patient organisations arrange meetings, support groups and courses for families.