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What Is Genetic Counseling?

Genetic counseling is a specialized branch of science aimed at helping individuals, couples and families understand the genetic aspects of illness. It is a process through which knowledge about genetics is shared by a Genetic counselor for a person to understand and adapt the medical, Psychological, reproductive and familial implications of the genetic contribution to specific health condition.

When there is a suspicion of a genetic condition in a newborn, a family history of cancer, a positive result in screening test for Down, Edward, Patau syndrome, previous child diagnosed with a condition, Bad obstetric history, infertility- these are a few examples of situations that confront patients with difficult information to be understood and assimilated along with an array of contradictory emotions. In situations like this, Genetic counseling plays an invaluable role in the process by offering specialized services within a clinical setting.

A Genetic counselor provides information on the inheritance of the condition, recurrence risks. Also, a Genetic counselor helps an individual to address the scientific and emotional issues that arise in such scenarios and actively help them make informed decisions based on the individual’s own values and circumstances.

How a Genetic Counselor Can Help You?

Genetic Counselor help identify families at possible risk of a genetic condition by gathering and analyzing family history and inheritance patterns and recurrence risk assessment.
They provide information about genetic testing and related procedures.
They address complex and difficult-to-comprehend information about genetic risks, testing, and diagnosis to families and patients.
They help families understand the significance of genetic conditions in relation to cultural, personal, and familial contexts.
They also discuss available options and can provide referrals to educational services advocacy and support groups, other health professionals, and community or state services.

Genetic Counseling Aims at Addressing:

Genetic risks based on an individual’s family history
Genetic risks for certain diseases or cancers
Whether genetic testing might be right an individual
What the results of genetic tests may mean for an individual and his/her family

How to Get Ready for Genetic Counseling?

Genetic Counseling appointments are quite different as compared to your doctor’s appointments. A genetic counseling session might last anywhere from 45 minutes to an hour, this is because it is an opportunity to ask questions, raise any fears or concerns that you have and learn more about genetics.

Also, previous Medical records (histopathology reports, doctors notes), Family members and their health, Major diseases in family, previous child affected, all of this plays an important role and is a key tool for Genetic counseling.

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What Does Genetic Counseling Involve?

Pedigree assessment - Detailed family history of an individual or a couple. Minimum of three generation pedigree is taken by a Genetic Counselor.
Education - About the natural history of the condition, inheritance pattern, testing, management, prevention, support resources and research
Risk Assessment - Interpretation of family and medical histories to assess the chance of disease occurrence or recurrence
Supportive Counselling - Support to encourage the best possible adjustment to the disorder in an affected family member and/or to the risk of recurrence of that disorder
Informed Choices - Counselling to promote informed choices in view of risk assessment, family goals, ethical and religious values
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When to Refer a Genetic Counselor?

You can meet a Genetic counselor when:
Premarital Genetic counseling
Offered to all couples with or without any genetic condition in the family. Mainly for a couple who are planning to get married consanguineously. Also, for couples where, both the partners are deaf/ mute, or both the partners are blind. Proven or suspected genetic disorder in the proposed partner or his/her family member.
Planning to have a consanguineous marriage or marry someone with proven genetic disorders? We are here to offer the right guidance!
Talk to Counsellor
Preconception Genetic Counseling

Preconceptual genetic counseling is available to couples who are planning a pregnancy, to discuss risks to a future pregnancy as well as available testing options. Common reasons to seek preconceptual genetic counseling are:

A woman who is (or will be) 35 years or older at delivery (singleton pregnancy), or 33 years or older at delivery (twin gestation).
A man who is (or will be) 40 years or older at delivery of his child.
Both partners are blood relatives, or from the same community, to discuss carrier screening.
A positive carrier screening test for a genetic condition such as thalassemia, sickle cell anemia, cystic fibrosis, Tay-Sachs, etc.
Planning a pregnancy? Worried about the genetic complications that might arise? We can help! Talk to us first!
Talk to Counsellor
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Prenatal Genetic Counseling

It is available for couples who are pregnant.

For a woman with an abnormal marker test, abnormal scan
Previous child affected with a genetic condition
Both partners being carrier for the same condition
One partner being affected with a condition
Either member of the couple with personal or family history of a known genetic condition, chromosomal abnormality (such as translocation, marker chromosome, mosaicism, etc.), cleft lip/palate, mental retardation, autism, hearing/vision loss, etc.
Planning a pregnancy? Worried about the genetic complications that might arise? We can help! Talk to us first!
Talk to Counsellor
A happy couple is holding a pregnancy test kit in their hand and smiling after seeing the positive result.
Pediatric Genetic Counseling

A referral to genetic counseling is extremely crucial for newborns or children suspected to have a genetic condition.

A genetic condition may be suspected because of clinical symptoms, birth defects, or developmental delays. The aim of genetic counseling in pediatrics is dual:

To establish a genetic diagnosis that will inform overall prognosis, treatment, and/or health care management
To provide information about recurrence risks and testing options to the parents for a future pregnancies
Worried whether your newborn has any genetic conditions that might hamper his/her growth? Let us walk you through the solutions and options!
Talk to Counsellor
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Some important indications for pediatric genetic assessment/counseling are listed below:
Unexplained intrauterine growth retardation
Abnormal New born screening tests such as ( phenylketonueria, CAH)
Developmental Delay
Congenital hypotonia/hypertonia
Suspected metabolic disorders
Neurological issues( Seizures)
Dysmorphology ( small, big head, squint eyes, webbed neck etc)
An unusual growth pattern such as overgrowth, short stature, or hemihypertrophy
Evidence of a connective tissue disorder such as extreme joint laxity, poor wound healing, or a marfanoid habitus
Bilateral or multifocal malignancies such as retinoblastoma or Wilms tumor
Problems with clotting including disorders such as hemophilia and thrombophilia
A recognized or suspected genetic syndrome including a chromosomal or single gene disorder
Progressive muscle weakness that might be associated with a genetic disorder such as a form of muscular dystrophy, spinal muscular atrophy, or myotonic dystrophy
Autism or pervasive developmental disorder
Adult Genetic Counseling
Family history of cancer/ cluster of cancers such as Breast, Ovarian, Prostate cancer
Young onset of cancer
Male breast cancer
Cardiovascular problems: Family history of stoke, Long QT syndrome, etc
Progressive neurologic condition known to be genomitically determined such as a peripheral neuropathy, unexplained myopathy, progressive ataxia, early onset dementia, and a familial movement disorder
Visual loss known to be associated with genetic factors such as retinitis pigmentosa, early-onset macular degeneration, and cataracts
Early onset hearing loss
Do you or your dear ones have any genetic health issues that needs immediate attention? We can help you get a clear diagnosis and start the right treatment!
Talk to Counsellor
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Reproductive Genetic Counseling
Primary infertility - When a couple is married for a year and have an unprotected intercourse, but unable to conceive.
Secondary Infertility - Secondary infertility refers to couples who have been able to get pregnant at least once, but now are unable.
Recurrent pregnancy loss - When there is more than two spontaneous abortions or unexplained first trimester abortion, it is termed as recurrent pregnancy loss. ( Usually associated with trisomies and monosomies)
Previous child affected with a conditionPrevious child affected with a condition
Preimplantation Genetic Testing and Diagnosis - Offered for those couples who are planning to get pregnant by ART.
Trouble getting pregnant? Worried about genetic issues that might arise? Concerned about your future child’s health? Let us help you!
Talk to Counsellor
A couple with a pregnant woman is getting consultation from a female doctor who is seen to be writing a prescription for the couple.
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