Genetics and Genomics

Question 1

What is the difference between genetics and genomics?

Answer 1

Genetics is the study of how different characteristics are inherited.

Genomics which studies all of an organisms genes (genome) to find the every difference contributed to a characteristics.

Question 2

List 8 types of genetic testing?

Answer 2

• microarray
• non-invasive prenatal testing
• qf-PCR
• Newborn blood spot test
  haemoglobinopathy screening
  karyotype analysis
  whole exome sequencing (WES)
  Targeted variant testing

Question 3

What is microarray?

Answer 3

a special genetic test that looks in detail at a person’s chromosomes to see if there are any extra or missing sections which might account for problems they have been experiencing.

Question 4

what is non-invasive prenatal testing (NIPT)?

Answer 4

blood test which is more accurate in the first pregnancy screening test. Offered to women who are carrying a baby identified from previous screening as having a higher chance of either having down’s syndrome, Edward’s syndrome or Patau’s syndrome.

Question 5

What is qf-PCR?

Answer 5

Quantitative fluorescent PCR (QF-PCR) has been used by many laboratories for prenatal diagnosis of the most common aneuploidies. (Fetal aneuploidy is a condition where the fetus has one or more extra or missing chromosomes leading to either a nonviable pregnancy, offspring that may not survive after birth, or surviving newborn with congenital birth defects and functional abnormalities.)

Question 6

what is newborn blood spot?

Answer 6

done day 5, checks for things like hypothyroidism

Question 7

what is haemoglobinopathy screening?

Answer 7

used to detect abnormal forms and/or relative amounts of haemoglobin.

Question 8

what is Karyotype analysis?

Answer 8

looks at the size, shape, and number of your chromosomes.

Question 9

what is whole exome sequencing (WES)?

Answer 9

comprehensive genetic test that identifies changes in a patient’s DNA that are causative or related to their medical concerns. By focusing on the entire protein-coding regions of the genome

Question 10

what is targeted variant testing?

Answer 10

used to determine if a specific familial variant is present.

Question 11

why is the booking appointment important in genomics?

Answer 11

It is often the first opportunity to use genomics to tailor care, through

• taking medical history - could reveal genetic condition which requires referrals and specialist care
• taking family history - may reveal potential genetic conditions related to this pregnancy or past
• talking through screening options - so parents can make informed decisions

Question 12

what things should i consider when completing a booking appointment?

Answer 12

• Does the expectant parent have a genetic condition?
• Is there a family history of any genetic condition on either side of the family? If so, is prenatal diagnostic testing available for the condition?
• Is there a family history of metabolic disorders?
• Do you know the referral pathway/process for prenatal diagnosis testing so that families can have timely access to information and support if required?
• Is there anything unusual about the expectant parent’s previous pregnancy history?
• Are the expectant parents related by blood?

Question 13

what practice points are there during screening in booking?

Answer 13

• Referrals for genomic counselling or testing should be made at the earliest possible opportunity as the test results can provide information that can have a considerable impact on care.
• . It is also always worth taking another look at a family history, especially if the previous genomics consultation was several years ago.

It is important to ‘think genomics’ whenever you ask about a personal, obstetric and family history, and to take timely, appropriate action if you notice a red flag.

Question 14

what are examples of genomic red flags?

Answer 14

A family history of breast, ovarian, bowel or another type of cancer (where the condition affects two or more individuals on the same side of the family)

A family history of heart disease or diabetes

A family history with young deaths on either side

An expectant parent with a history of issues in past pregnancies (for example, multiple miscarriages or a stillbirth)

A consanguineous relationship in the family

A history of clotting disorders

Deafness

Question 15

what do you do if a women disclosed a family history of breast,,ovarian, bowel or another type of cancer where two or more individuals in the same side of family are affected?

Answer 15

• Ask if there are several generations of cancer occurring in adolescents, young adults or individuals under 50 years of age.
• Explain that there may be a genetic basis for the condition.
• Ask if any individuals in the family have had genetic counselling.
Have a discussion with a genetic counsellor.

Question 16

what do you do if a woman discloses a family history of heart disease or diabetes?

Answer 16

• Identify the type of heart disease or diabetes in the family.
• Find out if there are several generations of heart disease or diabetes occurring in adolescents or young adults in the family.
• Ask how many relatives are or have been affected by heart disease or diabetes, and their ages.
• Ask about any surgeries or treatments that family members may have had.
Have a discussion with a genetic counsellor.

Question 17

what do you do if a woman discloses a family history with young death on either side?

Answer 17

• Identify the cause/s of death and any post-mortem findings.
Ask if any relatives have been seen by clinical genetics.

Question 18

what do you do if a woman discloses history of issues such past pregnancy?

Answer 18

Ask the expectant parent if they have been referred to a specialist clinic for any issues in previous pregnancies.

Question 19

what do you do if a woman discloses she is in a consanguineous relationship in the family?

Answer 19

• Ask if there have been any fetal anomalies in the family.
Find out what the relationship is between the expectant parents

Question 20

what do you do if there is a history of clotting disorders?

Answer 20

• Find out who in the family has had a clotting disorder. Is more than one family member affected?
Find out if there has there been any tests or investigations, and what the findings were.

Question 21

what do you do if there is a history of deafness?

Answer 21

Find out if the deafness is congenital or if it occurred later in life.

Question 22

what screening tests are offered during pregnancy?

Answer 22

• sickle cell and thalassemia screening
• combined test in the first trimester
• quadruple test
• non-invasive prenatal screening test NIPT
• 20 week scan

Question 23

what is the sickle cell and thalassaemia screening?

Answer 23

Sickle cell and thalassaemia screening test before 10 weeks, to find out if the expectant parent is a carrier of a gene for sickle cell or thalassaemia. A blood test or family origin questionnaire will be offered, depending on the prevalence of the condition within the trust.

booking bloods and FOQ form that goes with FBC

Question 24

what is the combined screening test?

Answer 24

in first trimester, to assess the chance of the baby having Down syndrome, Edwards syndrome or Patau syndrome.

Question 25

what is the quadruple test?

Answer 25

in the second trimester, to assess the chance of the baby having Down syndrome. This is offered if the combined test is missed.

Question 26

what is the non-invasive prenatal screening NIPT?

Answer 26

offered following a higher chance result from either the combined or quadruple test.

Question 27

what does the 20 week screen for?

Answer 27

11 rare conditions. (Anencephaly, open spina bifida, cleft lip, diaphragmatic hernia, gastroschisis, exomphalos, serious cardiac abnormalities, bilateral renal agenesis, lethal skeletal dysplasia, Edwards and Patau syndrome)

Question 28

what are the reasons Diagnostic tests on fetal DNA samples obtained from chorionic villus sampling (CVS) and amniocentesis are offered?

Answer 28

• unexpected findings from a screening test;
• a higher chance screening test result for a chromosomal condition;
• a previous pregnancy/baby with a genetic condition; and/or
a confirmed family history of a genetic condition, such as sickle cell disease, thalassaemia major or cystic fibrosis, where the baby is known to have a high probability of having the condition.

Question 29

what should i consider during the antenatal period in relation to genomics?

Answer 29

• What types of screening will be available to the expectant parent throughout the pregnancy? Remember that this can depend on many factors, including age, health and ethnicity.
• How much do you know about NIPT? it is crucial that you accurately understand what the test is, the possible results, whether it is available in your area and its benefits and limitations.
• Would knowing if the baby was affected with a genetic condition in the pregnancy affect the pregnancy plan?
• Would clinical management of the baby have to change, either in the pregnancy or directly after birth?
  Waiting for a diagnostic result can also be challenging for families. - Understand and help them manage uncertainty by knowing what testing is offered, what it involves and what it might mean, whatever the result.

Question 30

what are the practice points of genomics in the antenatal period?

Answer 30

• When discussing screening, be accurate and thorough, and prepare by familiarising yourself what is available locally.
• Do you understand what is involved in diagnostic testing, when CVS or amniocentesis can be performed, what tests to order and what the results may mean?
• If a diagnosis is made, caring for families during this period may include discussing termination of pregnancy or helping them to prepare for any health implications related to the condition when the baby is born. Entering these conversations with as much knowledge as possible can give families a better experience and help them to make more informed choices. An understanding of genomics and the ability to communicate effectively can make all the difference.

Question 31

what are the four genomic considerations at birth?

Answer 31

You could be the first to notice signs and symptoms that may indicate the baby has a genetic condition.
Remember to report and document anything unusual, different or unexpected. Take action to ensure that the baby receives the appropriate care. Understand the appropriate care pathway and refer accordingly.
2. You could be delivering a baby that was diagnosed with a genetic condition during the pregnancy or that has been identified as having a higher chance of having a condition, based on a screening test result or because of the family history.
3. You might be caring for an expectant parent who has a genetic condition themselves, meaning they are at higher risk during labour.
4. You could be delivering a baby following termination of pregnancy, or a stillborn baby due to genomic complications.

Question 32

how can cystic fibrosis or sickle cell disease affect pregnancy?

Answer 32

increased risk of complications around labour

Question 33

how does MCADD affect pregnancy?

Answer 33

Dietary considerations. Also has a considerable impact on neonatal care for the baby after birth

Question 34

how does Loeys-Dietz or vascular Ehlers Danlos syndrome affect pregnancy?

Answer 34

Increased risk of uterine/vascular rupture.

Question 35

how does haemophilia carrier affect pregnancy?

Answer 35

Increased risk of port-partum haemorrhage due to changes in factor VIII levels.

Question 36

how does factor V leiden affect pregnancy?

Answer 36

Increased risk of clotting disorders in pregnancy, and of miscarriage. Autosomal dominant condition.

Question 37

what are the preactice points of genomics at birth?

Answer 37

• Be aware that the family might not want or be able to process genomic information at this time. It is important to recognise when a conversation is unnecessary or could take place at a more appropriate moment. Consider providing information for them to take away, read and process in their own time.
• Support groups are a valuable resource for families during this difficult time, and they can help to answer questions and provide support in the days and weeks leading up to the birth and after birth. Make the expectant parent aware of these groups and how they can interact with them.
• Know where and what your referral pathways are and remember to treat any genomic red flags with the utmost importance. Your timely referral could make a huge difference.
• Remember that consideration should be given to future pregnancies. The family may need follow-up appointments to discuss any potential implications.
• Consider how individual, cultural and religious beliefs may impact on decisions made for testing and follow-up care.

Question 38

what are the three newborn routine screening?

Answer 38

Newborn and infant physical examination (NIPE) screening programme

Newborn blood spot (NBS) screening programme

Newborn hearing screening programme (NHSP)

Question 39

what is Newborn hearing screening programme (NHSP)?

Answer 39

Hearing screening is also offered soon after birth to identify congenital hearing problems, many of which are genomic in origin. In some cases, a second test will be offered because it is not always possible to get a clear response from the first test. This could happen for many reasons, and does not always mean that the baby has hearing loss. The second test could be the same as the first, or could be another type of a test, called the automated auditory brainstem response (AABR) test. Although it is not mandatory, it is important to explain the benefits of hearing screening to parents. Finding out about hearing loss early gives babies a better chance of developing communication skills and makes sure that families have access to the support they need.

Question 40

what is Newborn and infant physical examination (NIPE) screening programme?

Answer 40

At 72 hours and again at six weeks after birth, the child will have a physical examination that looks for anomalies in the eyes palate, heart, hips and testes
detailed check

Question 41

what is the newborn blood spot (NBS) screening programme?

Answer 41

It is crucial that a family history of any of the nine conditions is found earlier in the pregnancy so that an appropriate care plan can be created. In some cases, an early sample may be needed. Samples should be sent to the screening laboratory for analysis on the same day they are taken, and parents should receive the results within six weeks.

Question 42

what does the newborn blood spot screen for?

Answer 42

• Sickle cell disease
• Cystic fibrosis
• Congenital hypothyroidism
• Phenylketonuria
• Medium-chain acyl-CoA dehydrogenase deficiency (MCADD)
• Maple syrup urine disease
• Isovaleric acidaemia
• Glutaric aciduria type 1
Homocystinuria

Question 43

what happens if a baby has on of the blood spot conditions and it is not treated?

Answer 43

can become suddenly and seriously ill. If the baby is suspected to be at risk of a metabolic condition, special management is required depending on the condition

Question 44

what are the good practice points for genomics in postnatal care?

Answer 44

• Be aware that certain metabolic conditions, such as MCADD, dramatically affect the care plan during the neonatal period. Some may even require that an early blood spot sample be taken.
• Make sure that you are familiar with the different screening programmes, what the tests are, what the results could be, and what they could mean. Waiting to hear back about results can be an extremely stressful time for the family, and you can ease this burden of uncertainty by being a source of clear information.
• The neonatal period can be a high-risk time for the parent and child, with serious consequences for their health. Don’t take risks and stick to the care plan.

Question 45

what are screening midwives?

Answer 45

Screening midwives are involved in the application, training and monitoring of the screening standards within the trust. They work to ensure parents and clinicians understand the implications of screening, and identify parents who are at a higher chance of conditions being screened for. They then ensure that the parent is on the correct care pathway within an appropriate timeframe.

Question 46

what are fetal medicine midwives?

Answer 46

Fetal medicine midwives support expectant parents after a diagnosis of a fetal anomaly found on ultrasound examination. This support includes provision of information about the fetal anomaly, as well as pre-test counselling for those who choose to have a diagnostic test (for example, CVS or amniocentesis). They also support expectant parents to make difficult reproductive decisions and signpost them for additional advice and counselling.

Question 47

what are consultant midwives?

Answer 47

They support midwives to practise effectively and are well placed to integrate genomics within their areas of responsibility.

Question 48

what are specialist midwives in medical disorders?

Answer 48

Midwives work in partnership with obstetricians, physicians and specialist nurses to provide holistic care for a range of specific diseases within a ‘joint’ complex or high-risk clinic. Here, they see expectant parents affected by a pre-existing medical condition, for example, diabetes, epilepsy or high blood pressure – all of which could have an impact on the expectant parent and baby during pregnancy. Some of these conditions may have a genetic basis that will require a genomic evaluation.

Question 49

what are midwife sonographers?

Answer 49

trained in ultrasound routinely carry out an examination of the developing fetus to exclude structural anomalies as well as to obtain specific measurements to evaluate its growth, it is also important that midwife sonographers have an understanding of genomics, as ultrasound will inform the phenotype in some genomic conditions, for example, skeletal anomalies.

Question 50

what are research midwives?

Answer 50

Research midwives play an important role in genomic research studies related to pregnancy.